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acetyl-coa c-acetyltransferase deficiency
Screening for defects of branched-chain amino acid metabolism.
Acidosis
3-HMG Coenzyme A Lyase Deficiency: Macrocephaly and Left Ventricular Noncompaction with a Novel Mutation.
Acidosis
3-hydroxy-3-methylglutaryl-CoA lyase deficiency in an infant with macrocephaly and mild metabolic acidosis.
Acidosis
Application of multiplex ligation-dependent probe amplification, and identification of a heterozygous Alu-associated deletion and a uniparental disomy of chromosome 1 in two patients with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.
Acidosis
Rapid diagnosis of 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency via enzyme activity measurements in leukocytes or platelets using a simple spectrophotometric method.
Acidosis
The management of pregnancy and delivery in 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.
Acidosis
[Late onset 3-HMG-CoA lyase deficiency: a rare but treatable disorder]
acyl-coa dehydrogenase deficiency
[A pilot study of selective screening for high risk children with inborn error of metabolism using tandem mass spectrometry in China]
acyl-coa dehydrogenase deficiency
[Diagnosis of inborn errors of metabolism using tandem mass spectrometry and gas chromatography mass spectrometry]
acyl-coa dehydrogenase deficiency
[Metabolic defects with hypoketotic hypoglycemia]
Adenoma
Infusion of sodium butyrate promotes rumen papillae growth and enhances expression of genes related to rumen epithelial VFA uptake and metabolism in neonatal twin lambs.
Argininosuccinic Aciduria
Bloodspot acylcarnitine and amino acid analysis in cord blood samples: efficacy and reference data from a large cohort study.
Biotinidase Deficiency
Neurological Sequelae due to Inborn Metabolic Diseases in Pediatric Refugees: Challenges in Treating the Untreated.
Biotinidase Deficiency
[The advisory report 'Neonatal screening' from the Health Council of The Netherlands]
Brain Diseases
Stroke-like encephalopathy in an infant with 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency.
Breast Neoplasms
Ketone bodies and two-compartment tumor metabolism: stromal ketone production fuels mitochondrial biogenesis in epithelial cancer cells.
carboxypeptidase t deficiency
New genetic defects in mitochondrial fatty acid oxidation and carnitine deficiency.
Carcinoma, Hepatocellular
Effect of polyphenols on 3-hydroxy-3-methylglutaryl-coenzyme A lyase activity in human hepatoma HepG2 cell extracts.
Carcinoma, Hepatocellular
Inactive 3-hydroxy-3-methylglutaryl-coenzyme A reductase in broken cell preparations of various mammalian tissues and cell cultures.
Cardiomyopathies
Fatal cardiomyopathy associated with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.
Cardiomyopathy, Dilated
A Case of Dilated Cardiomyopathy Associated with 3-Hydroxy-3-Methylglutaryl-Coenzyme A (HMG CoA) Lyase Deficiency.
carnitine o-palmitoyltransferase deficiency
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
Cerebral Infarction
Cerebral infarction and pancreatitis: possible complications of patients with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.
Citrullinemia
[Diagnosis of inborn errors of metabolism using tandem mass spectrometry and gas chromatography mass spectrometry]
Colonic Neoplasms
HMG-CoA synthase 1 is a synthetic lethal partner of BRAF(V600E) in human cancers.
Coma
New genetic defects in mitochondrial fatty acid oxidation and carnitine deficiency.
Coma
[Late onset 3-HMG-CoA lyase deficiency: a rare but treatable disorder]
Deafness
The long-term evolution of a case of 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency associated with deafness and retinitis pigmentosa.
Diabetes Mellitus
Identification of 3-hydroxy-3-methylglutaric acid (HMG) as a hypoglycemic principle of Spanish moss (Tillandsia usneoides).
Friedreich Ataxia
Mitochondrial disease in superoxide dismutase 2 mutant mice.
fumarate hydratase deficiency
Selective Screening for Organic Acidurias and Amino Acidopathies in Pakistani Children.
Genetic Diseases, Inborn
In vivo experimental evidence that the major metabolites accumulating in 3-hydroxy-3-methylglutaryl-CoA lyase deficiency induce oxidative stress in striatum of developing rats: a potential pathophysiological mechanism of striatal damage in this disorder.
Genetic Diseases, Inborn
Molecular and clinical analysis of Japanese patients with 3-hydroxy-3-methylglutaryl CoA lyase (HL) deficiency.
Genetic Diseases, Inborn
Molecular genetics of HMG-CoA lyase deficiency.
Genetic Diseases, Inborn
Skipping of exon 2 and exons 2 plus 3 of HMG-CoA lyase (HL) gene produces the loss of beta sheets 1 and 2 in the recently proposed (beta-alpha)8 TIM barrel model of HL.
Heart Failure
A Case of Dilated Cardiomyopathy Associated with 3-Hydroxy-3-Methylglutaryl-Coenzyme A (HMG CoA) Lyase Deficiency.
Homocystinuria
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
Homocystinuria
[A pilot study of selective screening for high risk children with inborn error of metabolism using tandem mass spectrometry in China]
Homocystinuria
[Diagnosis of inborn errors of metabolism using tandem mass spectrometry and gas chromatography mass spectrometry]
Homocystinuria
[The advisory report 'Neonatal screening' from the Health Council of The Netherlands]
hydroxymethylglutaryl-coa lyase deficiency
3-HMG Coenzyme A Lyase Deficiency: Macrocephaly and Left Ventricular Noncompaction with a Novel Mutation.
hydroxymethylglutaryl-coa lyase deficiency
3-Hydroxy-3-methylglutaric aciduria in an Italian patient is caused by a new nonsense mutation in the HMGCL gene.
hydroxymethylglutaryl-coa lyase deficiency
3-Hydroxy-3-methylglutaric and 3-methylglutaric acids impair redox status and energy production and transfer in rat heart: relevance for the pathophysiology of cardiac dysfunction in 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency.
hydroxymethylglutaryl-coa lyase deficiency
3-Hydroxy-3-methylglutaryl coenzyme a lyase deficiency with reversible white matter changes after treatment.
hydroxymethylglutaryl-coa lyase deficiency
3-Hydroxy-3-methylglutaryl coenzyme A lyase deficiency.
hydroxymethylglutaryl-coa lyase deficiency
3-Hydroxy-3-methylglutaryl coenzyme A lyase deficiency. Follow-up of first described case.
hydroxymethylglutaryl-coa lyase deficiency
3-hydroxy-3-methylglutaryl coenzyme A lyase deficiency: postnatal management following prenatal diagnosis by analysis of maternal urine.
hydroxymethylglutaryl-coa lyase deficiency
3-Hydroxy-3-methylglutaryl-CoA lyase deficiency as detected by radiochemical assay in cell extracts by thin-layer chromatography, and identification of three new cases.
hydroxymethylglutaryl-coa lyase deficiency
3-Hydroxy-3-methylglutaryl-CoA lyase deficiency in a boy with VATER association.
hydroxymethylglutaryl-coa lyase deficiency
3-hydroxy-3-methylglutaryl-CoA lyase deficiency in an adult with leukoencephalopathy.
hydroxymethylglutaryl-coa lyase deficiency
3-hydroxy-3-methylglutaryl-CoA lyase deficiency in an infant with macrocephaly and mild metabolic acidosis.
hydroxymethylglutaryl-coa lyase deficiency
3-Hydroxy-3-methylglutaryl-CoA lyase deficiency studied using 2-dimensional proton nuclear magnetic resonance spectroscopy.
hydroxymethylglutaryl-coa lyase deficiency
3-Hydroxy-3-methylglutaryl-CoA lyase deficiency.
hydroxymethylglutaryl-coa lyase deficiency
3-Hydroxy-3-methylglutaryl-CoA lyase deficiency: absence of clinical symptoms due to a self-imposed dietary fat and protein restriction.
hydroxymethylglutaryl-coa lyase deficiency
3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency.
hydroxymethylglutaryl-coa lyase deficiency
3-Hydroxy-3-methylglutaryl-coenzyme a lyase deficiency: a review.
hydroxymethylglutaryl-coa lyase deficiency
3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: biochemical studies and family investigation of four generations.
hydroxymethylglutaryl-coa lyase deficiency
3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: Clinical presentation and outcome in a series of 37 patients.
hydroxymethylglutaryl-coa lyase deficiency
3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: Initial presentation in a young adult.
hydroxymethylglutaryl-coa lyase deficiency
3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: one disease - many faces.
hydroxymethylglutaryl-coa lyase deficiency
3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: report of five new patients.
hydroxymethylglutaryl-coa lyase deficiency
3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: review of 18 reported patients.
hydroxymethylglutaryl-coa lyase deficiency
3-methyl-3-butenoic acid: an artefact in the urinary metabolic pattern of patients with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.
hydroxymethylglutaryl-coa lyase deficiency
3-Methylglutaconyl-CoA hydratase, 3-methylcrotonyl-CoA carboxylase and 3-hydroxy-3-methylglutaryl-CoA lyase deficiencies: a coupled enzyme assay useful for their detection.
hydroxymethylglutaryl-coa lyase deficiency
A Case of Dilated Cardiomyopathy Associated with 3-Hydroxy-3-Methylglutaryl-Coenzyme A (HMG CoA) Lyase Deficiency.
hydroxymethylglutaryl-coa lyase deficiency
A child with acute pancreatitis and recurrent hypoglycemia due to 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.
hydroxymethylglutaryl-coa lyase deficiency
A neonatal case of 3-hydroxy-3-methylglutaric-coenzyme A lyase deficiency.
hydroxymethylglutaryl-coa lyase deficiency
A new case of 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency.
hydroxymethylglutaryl-coa lyase deficiency
A newborn screening approach to diagnose 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.
hydroxymethylglutaryl-coa lyase deficiency
A nonsense mutation in the 3-hydroxy-3-methylglutaryl-CoA lyase gene produces exon skipping in two patients of different origin with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.
hydroxymethylglutaryl-coa lyase deficiency
Analysis of aberrant splicing and nonsense-mediated decay of the stop codon mutations c.109G>T and c.504_505delCT in 7 patients with HMG-CoA lyase deficiency.
hydroxymethylglutaryl-coa lyase deficiency
Application of multiplex ligation-dependent probe amplification, and identification of a heterozygous Alu-associated deletion and a uniparental disomy of chromosome 1 in two patients with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.
hydroxymethylglutaryl-coa lyase deficiency
Atypical presentation and neuropathological studies in 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.
hydroxymethylglutaryl-coa lyase deficiency
Automated tandem mass spectrometry for mass newborn screening for disorders in fatty acid, organic acid, and amino acid metabolism.
hydroxymethylglutaryl-coa lyase deficiency
Bayesian multiple hypotheses testing in compositional analysis of untargeted metabolomic data.
hydroxymethylglutaryl-coa lyase deficiency
Bloodspot acylcarnitine and amino acid analysis in cord blood samples: efficacy and reference data from a large cohort study.
hydroxymethylglutaryl-coa lyase deficiency
Cerebral infarction and pancreatitis: possible complications of patients with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.
hydroxymethylglutaryl-coa lyase deficiency
Cerebral ketone body metabolism.
hydroxymethylglutaryl-coa lyase deficiency
Cerebral MRI in 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: case report.
hydroxymethylglutaryl-coa lyase deficiency
Corticospinal tract involvement in a patient with 3-HMG coenzyme A lyase deficiency.
hydroxymethylglutaryl-coa lyase deficiency
Coupled brain and urine spectroscopy - in vivo metabolomic characterization of HMG-CoA lyase deficiency in 5 patients.
hydroxymethylglutaryl-coa lyase deficiency
CT and MR of 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency.
hydroxymethylglutaryl-coa lyase deficiency
Dietary management of inborn errors of amino acid metabolism with protein-modified diets.
hydroxymethylglutaryl-coa lyase deficiency
Disturbance of redox homeostasis as a contributing underlying pathomechanism of brain and liver alterations in 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.
hydroxymethylglutaryl-coa lyase deficiency
Enzymatic diagnosis of 3-hydroxy-3-methylglutaryl-CoA lyase deficiency with high-performance liquid chromatography.
hydroxymethylglutaryl-coa lyase deficiency
Evaluation of 3-hydroxy-3-methylglutaryl-coenzyme A lyase arginine-41 as a catalytic residue: use of acetyldithio-coenzyme A to monitor product enolization.
hydroxymethylglutaryl-coa lyase deficiency
Evidence that 3-hydroxy-3-methylglutaric acid promotes lipid and protein oxidative damage and reduces the nonenzymatic antioxidant defenses in rat cerebral cortex.
hydroxymethylglutaryl-coa lyase deficiency
Fatal cardiomyopathy associated with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.
hydroxymethylglutaryl-coa lyase deficiency
Favourable Outcome in Two Pregnancies in a Patient with 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency.
hydroxymethylglutaryl-coa lyase deficiency
Gas-chromatographic/mass spectrometric detection of 3-hydroxy-3-methylglutaryl-CoA lyase deficiency in double first cousins.
hydroxymethylglutaryl-coa lyase deficiency
GC/MS analysis of urine in 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.
hydroxymethylglutaryl-coa lyase deficiency
Genetic complementation analysis of 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency in cultured fibroblasts.
hydroxymethylglutaryl-coa lyase deficiency
Hepatic Manifestations of 3-Hydroxy-3-Methylglutaryl-Coenzyme-A Lyase Deficiency in Saudi Patients: Experience of a Tertiary Care Center.
hydroxymethylglutaryl-coa lyase deficiency
HMG CoA lyase deficiency: identification of five causal point mutations in codons 41 and 42, including a frequent Saudi Arabian mutation, R41Q.
hydroxymethylglutaryl-coa lyase deficiency
Identification of 3-methylglutarylcarnitine. A new diagnostic metabolite of 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency.
hydroxymethylglutaryl-coa lyase deficiency
In vivo experimental evidence that the major metabolites accumulating in 3-hydroxy-3-methylglutaryl-CoA lyase deficiency induce oxidative stress in striatum of developing rats: a potential pathophysiological mechanism of striatal damage in this disorder.
hydroxymethylglutaryl-coa lyase deficiency
Inborn errors of metabolism and COVID-19: Evaluation of the metabolic outcome.
hydroxymethylglutaryl-coa lyase deficiency
Increased plasma amylase in the family of a patient with 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency.
hydroxymethylglutaryl-coa lyase deficiency
Induction of a Proinflammatory Response in Cortical Astrocytes by the Major Metabolites Accumulating in HMG-CoA Lyase Deficiency: the Role of ERK Signaling Pathway in Cytokine Release.
hydroxymethylglutaryl-coa lyase deficiency
Investigation of conserved acidic residues in 3-hydroxy-3-methylglutaryl-CoA lyase: implications for human disease and for functional roles in a family of related proteins.
hydroxymethylglutaryl-coa lyase deficiency
Ketogenic flux from lipids and leucine, assessment in 3-hydroxy-3-methylglutaryl CoA lyase deficiency.
hydroxymethylglutaryl-coa lyase deficiency
Management and long-term evolution of a patient with 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency.
hydroxymethylglutaryl-coa lyase deficiency
Mitochondrial disease in superoxide dismutase 2 mutant mice.
hydroxymethylglutaryl-coa lyase deficiency
Modeling of a mutation responsible for human 3-hydroxy-3-methylglutaryl-CoA lyase deficiency implicates histidine 233 as an active site residue.
hydroxymethylglutaryl-coa lyase deficiency
Molecular analysis of Taiwanese patients with 3-hydroxy-3-methylglutaryl CoA lyase deficiency.
hydroxymethylglutaryl-coa lyase deficiency
Molecular genetics of HMG-CoA lyase deficiency.
hydroxymethylglutaryl-coa lyase deficiency
Molecular prenatal diagnosis of 3-hydroxy-3-methylglutaryl CoA lyase deficiency.
hydroxymethylglutaryl-coa lyase deficiency
MR imaging and proton spectroscopy in 3-hydroxy-3-methylglutaryl coenzyme A lyase deficiency.
hydroxymethylglutaryl-coa lyase deficiency
MRI and MRS in HMG-CoA lyase deficiency.
hydroxymethylglutaryl-coa lyase deficiency
Mutations underlying 3-hydroxy-3-methylglutaryl CoA lyase deficiency in the Saudi population.
hydroxymethylglutaryl-coa lyase deficiency
Neurological Sequelae due to Inborn Metabolic Diseases in Pediatric Refugees: Challenges in Treating the Untreated.
hydroxymethylglutaryl-coa lyase deficiency
Neurometabolic diseases at a national referral center: five years experience at the King Faisal Specialist Hospital and Research Centre.
hydroxymethylglutaryl-coa lyase deficiency
New genetic defects in mitochondrial fatty acid oxidation and carnitine deficiency.
hydroxymethylglutaryl-coa lyase deficiency
Organic acid excretion in a patient with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency: facts and artefacts.
hydroxymethylglutaryl-coa lyase deficiency
Pilot Experience with an External Quality Assurance Scheme for Acylcarnitines in Plasma/Serum.
hydroxymethylglutaryl-coa lyase deficiency
Potential prenatal diagnosis of 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency.
hydroxymethylglutaryl-coa lyase deficiency
Prenatal diagnosis of 3-hydroxy-3-methylglutaric aciduria by GC-MS and enzymology on cultured amniocytes and chorionic villi.
hydroxymethylglutaryl-coa lyase deficiency
Rapid diagnosis of 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency via enzyme activity measurements in leukocytes or platelets using a simple spectrophotometric method.
hydroxymethylglutaryl-coa lyase deficiency
Redox homeostasis is compromised in vivo by the metabolites accumulating in 3-hydroxy-3-methylglutaryl-CoA lyase deficiency in rat cerebral cortex and liver.
hydroxymethylglutaryl-coa lyase deficiency
Screening for defects of branched-chain amino acid metabolism.
hydroxymethylglutaryl-coa lyase deficiency
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
hydroxymethylglutaryl-coa lyase deficiency
Selective Screening for Organic Acidurias and Amino Acidopathies in Pakistani Children.
hydroxymethylglutaryl-coa lyase deficiency
Striatum is more vulnerable to oxidative damage induced by the metabolites accumulating in 3-hydroxy-3-methylglutaryl-CoA lyase deficiency as compared to liver.
hydroxymethylglutaryl-coa lyase deficiency
Stroke-like encephalopathy in an infant with 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency.
hydroxymethylglutaryl-coa lyase deficiency
Structural elucidation of novel biomarkers of known metabolic disorders based on multistage fragmentation mass spectra.
hydroxymethylglutaryl-coa lyase deficiency
Studies on a child suspected of having a dficiency in 3-hydroxy-3-methylglutaryl-Co A lyase.
hydroxymethylglutaryl-coa lyase deficiency
Successful Management of Pregnancies in Patients with Inherited Disorders of Ketone Body Metabolism.
hydroxymethylglutaryl-coa lyase deficiency
Sudden death in an infant with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.
hydroxymethylglutaryl-coa lyase deficiency
The long-term evolution of a case of 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency associated with deafness and retinitis pigmentosa.
hydroxymethylglutaryl-coa lyase deficiency
The management of pregnancy and delivery in 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.
hydroxymethylglutaryl-coa lyase deficiency
[3-hydroxy-3-methylglutaric aciduria and recurrent Reye-like syndrome]
hydroxymethylglutaryl-coa lyase deficiency
[3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency as a cause of severe neurological damage]
hydroxymethylglutaryl-coa lyase deficiency
[A pilot study of selective screening for high risk children with inborn error of metabolism using tandem mass spectrometry in China]
hydroxymethylglutaryl-coa lyase deficiency
[Application of tandem mass spectrometry in diagnosis of organic acidemias]
hydroxymethylglutaryl-coa lyase deficiency
[Late onset 3-HMG-CoA lyase deficiency: a rare but treatable disorder]
hydroxymethylglutaryl-coa lyase deficiency
[Leucodystrophy induced by late onset 3-hydroxy-3-methylglutaric aciduria].
hydroxymethylglutaryl-coa lyase deficiency
[Metabolic defects with hypoketotic hypoglycemia]
hydroxymethylglutaryl-coa lyase deficiency
[Sudden death of a patient with 3-hydroxy-3-methylglutaryl coenzyme A lyase deficiency]
hydroxymethylglutaryl-coa lyase deficiency
[The advisory report 'Neonatal screening' from the Health Council of The Netherlands]
Hyperthyroidism
Manipulation of thyroid status and/or GH injection alters hepatic gene expression in the juvenile chicken.
Hypoglycemia
3-HMG Coenzyme A Lyase Deficiency: Macrocephaly and Left Ventricular Noncompaction with a Novel Mutation.
Hypoglycemia
3-hydroxy-3-methylglutaryl-CoA lyase deficiency in an adult with leukoencephalopathy.
Hypoglycemia
A child with acute pancreatitis and recurrent hypoglycemia due to 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.
Hypoglycemia
Application of multiplex ligation-dependent probe amplification, and identification of a heterozygous Alu-associated deletion and a uniparental disomy of chromosome 1 in two patients with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.
Hypoglycemia
Ketone body metabolism and its defects.
Hypoglycemia
New genetic defects in mitochondrial fatty acid oxidation and carnitine deficiency.
Hypoglycemia
Rapid diagnosis of 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency via enzyme activity measurements in leukocytes or platelets using a simple spectrophotometric method.
Hypoglycemia
The management of pregnancy and delivery in 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.
Hypoglycemia
[Late onset 3-HMG-CoA lyase deficiency: a rare but treatable disorder]
Hypothyroidism
Manipulation of thyroid status and/or GH injection alters hepatic gene expression in the juvenile chicken.
Infections
3-HMG Coenzyme A Lyase Deficiency: Macrocephaly and Left Ventricular Noncompaction with a Novel Mutation.
isovaleryl-coa dehydrogenase deficiency
Screening for defects of branched-chain amino acid metabolism.
Ketosis
Assessing the metabolic and toxic effects of anticonvulsant doses of polyunsaturated fatty acids on the liver in rats.
Ketosis
Effect of polyphenols on 3-hydroxy-3-methylglutaryl-coenzyme A lyase activity in human hepatoma HepG2 cell extracts.
Ketosis
Successful Management of Pregnancies in Patients with Inherited Disorders of Ketone Body Metabolism.
Lethargy
Molecular and clinical analysis of Japanese patients with 3-hydroxy-3-methylglutaryl CoA lyase (HL) deficiency.
Leukemia
Metabolic Rewiring by Oncogenic BRAF V600E Links Ketogenesis Pathway to BRAF-MEK1 Signaling.
Leukemia, Hairy Cell
Metabolic Rewiring by Oncogenic BRAF V600E Links Ketogenesis Pathway to BRAF-MEK1 Signaling.
Leukemia, Myelogenous, Chronic, BCR-ABL Positive
HMGCLL1 is a predictive biomarker for deep molecular response to imatinib therapy in chronic myeloid leukemia.
Leukoencephalopathies
3-hydroxy-3-methylglutaryl-CoA lyase deficiency in an adult with leukoencephalopathy.
long-chain acyl-coa dehydrogenase deficiency
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
Maple Syrup Urine Disease
Bloodspot acylcarnitine and amino acid analysis in cord blood samples: efficacy and reference data from a large cohort study.
Maple Syrup Urine Disease
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
Maple Syrup Urine Disease
[Diagnosis of inborn errors of metabolism using tandem mass spectrometry and gas chromatography mass spectrometry]
Maple Syrup Urine Disease
[The advisory report 'Neonatal screening' from the Health Council of The Netherlands]
medium-chain acyl-coa dehydrogenase deficiency
Automated tandem mass spectrometry for mass newborn screening for disorders in fatty acid, organic acid, and amino acid metabolism.
medium-chain acyl-coa dehydrogenase deficiency
Bayesian multiple hypotheses testing in compositional analysis of untargeted metabolomic data.
medium-chain acyl-coa dehydrogenase deficiency
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
medium-chain acyl-coa dehydrogenase deficiency
[A pilot study of selective screening for high risk children with inborn error of metabolism using tandem mass spectrometry in China]
medium-chain acyl-coa dehydrogenase deficiency
[Diagnosis of inborn errors of metabolism using tandem mass spectrometry and gas chromatography mass spectrometry]
medium-chain acyl-coa dehydrogenase deficiency
[The advisory report 'Neonatal screening' from the Health Council of The Netherlands]
Megalencephaly
3-HMG Coenzyme A Lyase Deficiency: Macrocephaly and Left Ventricular Noncompaction with a Novel Mutation.
Megalencephaly
3-hydroxy-3-methylglutaryl-CoA lyase deficiency in an infant with macrocephaly and mild metabolic acidosis.
Melanoma
HMG-CoA synthase 1 is a synthetic lethal partner of BRAF(V600E) in human cancers.
Melanoma
Ketogenesis Drives BRAF-MEK1 Signaling in BRAFV600E-Positive Cancers.
Melanoma
Metabolic Rewiring by Oncogenic BRAF V600E Links Ketogenesis Pathway to BRAF-MEK1 Signaling.
Metabolism, Inborn Errors
3-Methylglutaric acid in energy metabolism.
Metabolism, Inborn Errors
Neurological Sequelae due to Inborn Metabolic Diseases in Pediatric Refugees: Challenges in Treating the Untreated.
methylcrotonoyl-coa carboxylase deficiency
Screening for defects of branched-chain amino acid metabolism.
methylcrotonoyl-coa carboxylase deficiency
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
methylcrotonoyl-coa carboxylase deficiency
[Application of tandem mass spectrometry in diagnosis of organic acidemias]
methylcrotonoyl-coa carboxylase deficiency
[Diagnosis of inborn errors of metabolism using tandem mass spectrometry and gas chromatography mass spectrometry]
methylcrotonoyl-coa carboxylase deficiency
[The advisory report 'Neonatal screening' from the Health Council of The Netherlands]
methylglutaconyl-coa hydratase deficiency
Screening for defects of branched-chain amino acid metabolism.
Mitochondrial Diseases
Molecular analysis of Taiwanese patients with 3-hydroxy-3-methylglutaryl CoA lyase deficiency.
Mitochondrial Myopathies
Mitochondrial disease in superoxide dismutase 2 mutant mice.
Mucopolysaccharidoses
Neurological Sequelae due to Inborn Metabolic Diseases in Pediatric Refugees: Challenges in Treating the Untreated.
Mucopolysaccharidosis II
Neurological Sequelae due to Inborn Metabolic Diseases in Pediatric Refugees: Challenges in Treating the Untreated.
Mucopolysaccharidosis VI
Neurological Sequelae due to Inborn Metabolic Diseases in Pediatric Refugees: Challenges in Treating the Untreated.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Bloodspot acylcarnitine and amino acid analysis in cord blood samples: efficacy and reference data from a large cohort study.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
[Application of tandem mass spectrometry in diagnosis of organic acidemias]
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
[Diagnosis of inborn errors of metabolism using tandem mass spectrometry and gas chromatography mass spectrometry]
Multiple Carboxylase Deficiency
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
Multiple Carboxylase Deficiency
Selective Screening for Organic Acidurias and Amino Acidopathies in Pakistani Children.
Muscle Hypotonia
Molecular and clinical analysis of Japanese patients with 3-hydroxy-3-methylglutaryl CoA lyase (HL) deficiency.
Nasopharyngeal Carcinoma
Inactivation of HMGCL promotes proliferation and metastasis of nasopharyngeal carcinoma by suppressing oxidative stress.
Neoplasm Metastasis
Genome-Wide Mapping of the Binding Sites and Structural Analysis of Kaposi's Sarcoma-Associated Herpesvirus Viral Interferon Regulatory Factor 2 Reveal that It Is a DNA-Binding Transcription Factor.
Neoplasm Metastasis
Inactivation of HMGCL promotes proliferation and metastasis of nasopharyngeal carcinoma by suppressing oxidative stress.
Neoplasms
Dysregulation of Ketone Body Metabolism Is Associated With Poor Prognosis for Clear Cell Renal Cell Carcinoma Patients.
Neoplasms
Genome-Wide Mapping of the Binding Sites and Structural Analysis of Kaposi's Sarcoma-Associated Herpesvirus Viral Interferon Regulatory Factor 2 Reveal that It Is a DNA-Binding Transcription Factor.
Neoplasms
HMG-CoA synthase 1 is a synthetic lethal partner of BRAF(V600E) in human cancers.
Neoplasms
Ketone bodies and two-compartment tumor metabolism: stromal ketone production fuels mitochondrial biogenesis in epithelial cancer cells.
Neoplasms
Metabolic Rewiring by Oncogenic BRAF V600E Links Ketogenesis Pathway to BRAF-MEK1 Signaling.
ornithine carbamoyltransferase deficiency
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
ornithine carbamoyltransferase deficiency
[Diagnosis of inborn errors of metabolism using tandem mass spectrometry and gas chromatography mass spectrometry]
Ornithine Carbamoyltransferase Deficiency Disease
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
Ornithine Carbamoyltransferase Deficiency Disease
[Diagnosis of inborn errors of metabolism using tandem mass spectrometry and gas chromatography mass spectrometry]
Pancreatitis
A child with acute pancreatitis and recurrent hypoglycemia due to 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.
Pancreatitis
Cerebral infarction and pancreatitis: possible complications of patients with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.
peptidyl-glutamate 4-carboxylase deficiency
Automated tandem mass spectrometry for mass newborn screening for disorders in fatty acid, organic acid, and amino acid metabolism.
peptidyl-glutamate 4-carboxylase deficiency
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
peptidyl-glutamate 4-carboxylase deficiency
Selective Screening for Organic Acidurias and Amino Acidopathies in Pakistani Children.
peptidyl-glutamate 4-carboxylase deficiency
[Diagnosis of inborn errors of metabolism using tandem mass spectrometry and gas chromatography mass spectrometry]
Phenylketonurias
Bloodspot acylcarnitine and amino acid analysis in cord blood samples: efficacy and reference data from a large cohort study.
Phenylketonurias
Neurological Sequelae due to Inborn Metabolic Diseases in Pediatric Refugees: Challenges in Treating the Untreated.
Phenylketonurias
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
Phenylketonurias
Structural elucidation of novel biomarkers of known metabolic disorders based on multistage fragmentation mass spectra.
Propionic Acidemia
Automated tandem mass spectrometry for mass newborn screening for disorders in fatty acid, organic acid, and amino acid metabolism.
Propionic Acidemia
Inborn errors of metabolism and COVID-19: Evaluation of the metabolic outcome.
Propionic Acidemia
Neurometabolic diseases at a national referral center: five years experience at the King Faisal Specialist Hospital and Research Centre.
Propionic Acidemia
[A pilot study of selective screening for high risk children with inborn error of metabolism using tandem mass spectrometry in China]
Propionic Acidemia
[Application of tandem mass spectrometry in diagnosis of organic acidemias]
Propionic Acidemia
[Diagnosis of inborn errors of metabolism using tandem mass spectrometry and gas chromatography mass spectrometry]
Retinitis Pigmentosa
The long-term evolution of a case of 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency associated with deafness and retinitis pigmentosa.
Reye Syndrome
A child with acute pancreatitis and recurrent hypoglycemia due to 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.
Reye Syndrome
[3-hydroxy-3-methylglutaric aciduria and recurrent Reye-like syndrome]
Reye Syndrome
[Hydroxy-methyl-glutaryl-coenzyme A lyase deficiency manifesting as Reye's syndrome in a 3-year-old girl]
Seizures
3-HMG Coenzyme A Lyase Deficiency: Macrocephaly and Left Ventricular Noncompaction with a Novel Mutation.
Seizures
Corticospinal tract involvement in a patient with 3-HMG coenzyme A lyase deficiency.
short-chain acyl-coa dehydrogenase deficiency
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
short-chain acyl-coa dehydrogenase deficiency
[Diagnosis of inborn errors of metabolism using tandem mass spectrometry and gas chromatography mass spectrometry]
Tyrosinemias
[A pilot study of selective screening for high risk children with inborn error of metabolism using tandem mass spectrometry in China]
Tyrosinemias
[Diagnosis of inborn errors of metabolism using tandem mass spectrometry and gas chromatography mass spectrometry]
very-long-chain acyl-coa dehydrogenase deficiency
[The advisory report 'Neonatal screening' from the Health Council of The Netherlands]
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Wysocki, S.J.; Haehnel, R.
3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: a review
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1986
Homo sapiens
brenda
Ashmarina, L.I.; Robert, M.F.; Elsliger, M.A.; Mitchell, G.A.
Characterization of the hydroxymethylglutaryl-CoA lyase precursor, a protein targeted to peroxisomes and mitochondria
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1996
Homo sapiens
brenda
Mitchell, G.A.; Robert, M.F.; Hruz, P.W.; Wang, S.; Fontaine, G.; Behnke, C.E.; Mende-Mueller, L.M.; Schappert, K.; Lee, C.; Gibson, K.M.; Miziorko, H.M.
3-Hydroxy-3-methylglutaryl coenzyme A lyase (HL)
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Gallus gallus, Homo sapiens
brenda
Roberts, J.R.; Narasimhan, C.; Hruz, P.W.; Mitchell, G.A.; Miziorko, H.M.
3-Hydroxy-3-methylglutaryl-CoA lyase: expression and isolation of the recombinant human enzyme and investigation of a mechanism for regulation of enzyme activity
J. Biol. Chem.
269
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1994
Homo sapiens
brenda
Wanders, R.J.A.; Schutgens, R.B.H.; Zoeters, P.H.M.
3-Hydroxy-3-methylglutaryl-CoA lyase in human skin fibroblasts: study of its properties and deficient activity in 3-hydroxy-3-methylglutaric aciduria patients using a simple spectrophotometric method
Clin. Chim. Acta
171
95-102
1988
Homo sapiens
brenda
Tuinstra, R.L.; Burgner, J.W.2nd.; Miziorko, H.M.
Investigation of the oligomeric status of the peroxisomal isoform of human 3-hydroxy-3-methylglutaryl-CoA lyase
Arch. Biochem. Biophys.
408
286-294
2002
Homo sapiens
brenda
Tuinstra, R.L.; Wang, C.Z.; Mitchell, G.A.; Miziorko, H.M.
Evaluation of 3-hydroxy-3-methylglutaryl-coenzyme A lyase arginine-41 as a catalytic residue: Use of acetyldithio-coenzyme A to monitor product enolization
Biochemistry
43
5287-5295
2004
Homo sapiens
brenda
Casals, N.; Gomez-Puertas, P.; Pie, J.; Mir, C.; Roca, R.; Puisac, B.; Aledo, R.; Clotet, J.; Menao, S.; Serra, D.; Asins, G.; Till, J.; Elias-Jones, A.C.; Cresto, J.C.; Chamoles, N.A.; Abdenur, J.E.; Mayatepek, E.; Besley, G.; Valencia, A.; Hegardt, F.G.
Structural (betaalpha)8 TIM barrel model of 3-hydroxy-3-methylglutaryl-coenzyme A lyase
J. Biol. Chem.
278
29016-29023
2003
Homo sapiens
brenda
Ashmarina, L.I.; Pshezhetsky, A.V.; Branda, S.S.; Isaya, G.; Mitchell, G.A.
3-Hydroxy-3-methylglutaryl coenzyme A lyase: targeting and processing in peroxisomes and mitochondria
J. Lipid Res.
40
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1999
Homo sapiens
brenda
Puisac, B.; Lopez-Vinas, E.; Moreno, S.; Mir, C.; Perez-Cerda, C.; Menao, S.; Lluch, D.; Pie, A.; Gomez-Puertas, P.; Casals, N.; Ugarte, M.; Hegardt, F.; Pie, J.
Skipping of exon 2 and exons 2 plus 3 of HMG-CoA lyase (HL) gene produces the loss of beta sheets 1 and 2 in the recently proposed (beta-alpha)8 TIM barrel model of HL
Biophys. Chem.
115
241-245
2005
Homo sapiens
brenda
Fu, Z.; Runquist, J.A.; Forouhar, F.; Hussain, M.; Hunt, J.F.; Miziorko, H.M.; Kim, J.J.
Crystal structure of human HMG-CoA lyase: Insights into catalysis and the molecular basis for hydroxymethylglutaric aciduria
J. Biol. Chem.
281
7526-7532
2005
Homo sapiens
brenda
Cardoso, M.L.; Rodrigues, M.R.; Leao, E.; Martins, E.; Diogo, L.; Rodrigues, E.; Garcia, P.; Rolland, M.O.; Vilarinho, L.
The E37X is a common HMGCL mutation in Portuguese patients with 3-hydroxy-3-methylglutaric CoA lyase deficiency
Mol. Genet. Metab.
82
334-338
2004
Homo sapiens
brenda
Al-Sayed, M.; Imtiaz, F.; Alsmadi, O.A.; Rashed, M.S.; Meyer, B.F.
Mutations underlying 3-hydroxy-3-methylglutaryl CoA lyase deficiency in the Saudi population
BMC Med. Genet.
7
86
2006
Homo sapiens
brenda
Mir, C.; Lopez-Vinas, E.; Aledo, R.; Puisac, B.; Rizzo, C.; Dionisi-Vici, C.; Deodato, F.; Pie, J.; Gomez-Puertas, P.; Hegardt, F.G.; Casals, N.
A single-residue mutation, G203E, causes 3-hydroxy-3-methylglutaric aciduria by occluding the substrate channel in the 3D structural model of HMG-CoA lyase
J. Inherit. Metab. Dis.
29
64-70
2006
Homo sapiens (P35914)
brenda
Carrasco, P.; Menao, S.; Lopez-Vinas, E.; Santpere, G.; Clotet, J.; Sierra, A.Y.; Gratacos, E.; Puisac, B.; Gomez-Puertas, P.; Hegardt, F.G.; Pie, J.; Casals, N.
C-terminal end and amino acid Lys48 in HMG-CoA lyase are involved in substrate binding and enzyme activity
Mol. Genet. Metab.
91
120-127
2007
Homo sapiens (P35914), Homo sapiens
brenda
Pie, J.; Lopez-Vinas, E.; Puisac, B.; Menao, S.; Pie, A.; Casale, C.; Ramos, F.J.; Hegardt, F.G.; Gomez-Puertas, P.; Casals, N.
Molecular genetics of HMG-CoA lyase deficiency
Mol. Genet. Metab.
92
198-209
2007
Homo sapiens (P35914), Homo sapiens
brenda
Lin, W.D.; Wang, C.H.; Lai, C.C.; Tsai, Y.; Wu, J.Y.; Chen, C.P.; Tsai, F.J.
Molecular analysis of Taiwanese patients with 3-hydroxy-3-methylglutaryl CoA lyase deficiency
Clin. Chim. Acta
401
33-36
2009
Homo sapiens
brenda
Leung, A.A.; Chan, A.K.; Ezekowitz, J.A.; Leung, A.K.
A case of dilated cardiomyopathy associated with 3-hydroxy-3-methylglutaryl-coenzyme A (HMG CoA) lyase deficiency
Case Report Med.
2009
183125
2009
Homo sapiens
brenda
Reimao, S.; Morgado, C.; Almeida, I.T.; Silva, M.; Real, H.C.; Campos, J.
3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: Initial presentation in a young adult
J. Inherit. Metab. Dis.
32
S49-52
2009
Homo sapiens
brenda
Montgomery, C.; Miziorko, H.M.
Influence of multiple cysteines on human 3-hydroxy-3-methylglutaryl-CoA lyase activity and formation of inter-subunit adducts
Arch. Biochem. Biophys.
511
48-55
2011
Homo sapiens (P35914), Homo sapiens
brenda
Fu, Z.; Runquist, J.A.; Montgomery, C.; Miziorko, H.M.; Kim, J.J.
Functional insights into human HMG-CoA lyase from structures of Acyl-CoA-containing ternary complexes
J. Biol. Chem.
285
26341-26349
2010
Homo sapiens
brenda
Puisac, B.; Arnedo, M.; Casale, C.H.; Ribate, M.P.; Castiella, T.; Ramos, F.J.; Ribes, A.; Perez-Cerda, C.; Casals, N.; Hegardt, F.G.; Pie, J.
Differential HMG-CoA lyase expression in human tissues provides clues about 3-hydroxy-3-methylglutaric aciduria
J. Inherit. Metab. Dis.
33
405-410
2010
Homo sapiens
brenda
Nakagawa, S.; Kojima, Y.; Sekino, K.; Yamato, S.
Effect of polyphenols on 3-hydroxy-3-methylglutaryl-coenzyme A lyase activity in human hepatoma HepG2 cell extracts
Biol. Pharm. Bull.
36
1902-1906
2013
Homo sapiens
brenda
Montgomery, C.; Pei, Z.; Watkins, P.A.; Miziorko, H.M.
Identification and characterization of an extramitochondrial human 3-hydroxy-3-methylglutaryl-CoA lyase
J. Biol. Chem.
287
33227-33236
2012
Homo sapiens
brenda