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Information on EC 4.1.3.4 - hydroxymethylglutaryl-CoA lyase
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EC Tree
4.1.3.4 hydroxymethylglutaryl-CoA lyaseSpecify your search results
Word Map
- 4.1.3.4
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3-hydroxy-3-methylglutaric
- aciduria
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ketogenesis
- hypoglycemia
- acidosis
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inborn
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3-methylglutaric
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3-methylglutaconic
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ketogenic
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3-hydroxyisovaleric
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hyperammonemia
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hypoketotic
- mevalonii
- lethargy
- 3-methylcrotonyl-coa
- medicine
- acetoacetyl-coa
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hl-deficient
- hmgcs2
The expected taxonomic range for this enzyme is: Bacteria, Eukaryota, Archaea
Synonyms
hmg-coa lyase, hmgcl, 3-hydroxy-3-methylglutaryl-coa lyase, hmgcll1, 3-hydroxy-3-methylglutaryl-coenzyme a lyase, 3-hydroxy-3-methylglutaryl coenzyme a lyase, hydroxymethylglutaryl-coa lyase, 3-hydroxy-3-methylglutaryl coa lyase, hmg coa lyase, liue protein, 
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SYNONYM 
ORGANISM
UNIPROT
COMMENTARY 
LITERATURE
3-hydroxy-3-methylglutarate-CoA lyase
3-Hydroxy-3-methylglutaryl CoA cleaving enzyme
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-
-
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3-hydroxy-3-methylglutaryl CoA lyase
3-Hydroxy-3-methylglutaryl coenzyme A lyase
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3-Hydroxy-3-methylglutaryl-CoA lyase
beta-hydroxy-beta-methylglutaryl-CoA lyase
HMG CoA cleavage enzyme
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-
-
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HMG CoA lyase
HMG-CoA lyase
HMGCL
Hydroxymethylglutaryl coenzyme A lyase
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-
-
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Hydroxymethylglutaryl coenzyme A-cleaving enzyme
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LiuE protein
3-hydroxy-3-methylglutarate-CoA lyase
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-
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3-Hydroxy-3-methylglutaryl-CoA lyase
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-
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HMG-CoA lyase
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LiuE protein
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in addition to show HMG-CoA lyase activity, LiuE also displays 3-hydroxy-3-isohexenylglutaryl-CoA lyase activity
LiuE protein
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in addition to show HMG-CoA lyase activity, LiuE also displays 3-hydroxy-3-isohexenylglutaryl-CoA lyase activity
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REACTION
REACTION DIAGRAM
COMMENTARY
ORGANISM
UNIPROT
LITERATURE
(S)-3-Hydroxy-3-methylglutaryl-CoA = acetyl-CoA + acetoacetate
identification of reactive cysteines, possibly regulatory mechanism via thiol/disulfide exchange
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(S)-3-Hydroxy-3-methylglutaryl-CoA = acetyl-CoA + acetoacetate
identification of reactive cysteines, possibly regulatory mechanism via thiol/disulfide exchange
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(S)-3-Hydroxy-3-methylglutaryl-CoA = acetyl-CoA + acetoacetate
enzyme is stereospecific and proceeds with inversion of configuration
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(S)-3-Hydroxy-3-methylglutaryl-CoA = acetyl-CoA + acetoacetate
identification of functionally important S69
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(S)-3-Hydroxy-3-methylglutaryl-CoA = acetyl-CoA + acetoacetate
C237 is crucial for catalysis
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(S)-3-Hydroxy-3-methylglutaryl-CoA = acetyl-CoA + acetoacetate
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REACTION TYPE
ORGANISM
UNIPROT
COMMENTARY
LITERATURE
elimination
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of an oxo-acid, C-C bond cleavage
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PATHWAY SOURCE
PATHWAYS
BRENDA
KEGG
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SYSTEMATIC NAME
IUBMB Comments
(S)-3-hydroxy-3-methylglutaryl-CoA acetoacetate-lyase (acetyl-CoA-forming)
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CAS REGISTRY NUMBER
COMMENTARY
9030-83-5
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SUBSTRATE
PRODUCT
REACTION DIAGRAM
ORGANISM
UNIPROT
COMMENTARY
(Substrate)
(Substrate)
LITERATURE
(Substrate)
(Substrate)
COMMENTARY
(Product)
(Product)
LITERATURE
(Product)
(Product)
Reversibility
r=reversible
ir=irreversible
?=not specified
r=reversible
ir=irreversible
?=not specified
(S)-3-Hydroxy-3-methylglutaryl-CoA
?
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involved in ketogenesis, leucine catabolism
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-
?
(S)-3-Hydroxy-3-methylglutaryl-CoA
?
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involved in ketogenesis, leucine catabolism
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-
?
(S)-3-Hydroxy-3-methylglutaryl-CoA
?
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involved in regulation of isoprenoid pathway
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-
?
(S)-3-Hydroxy-3-methylglutaryl-CoA
?
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involved in ketogenesis, leucine catabolism
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-
?
(S)-3-Hydroxy-3-methylglutaryl-CoA
?
-
acetoacetate as fuel for extrahepatic tissues, involved in mevalonate synthesis
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-
?
(S)-3-Hydroxy-3-methylglutaryl-CoA
Acetyl-CoA + acetoacetate
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-
-
?
(S)-3-Hydroxy-3-methylglutaryl-CoA
Acetyl-CoA + acetoacetate
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-
-
?
(S)-3-Hydroxy-3-methylglutaryl-CoA
Acetyl-CoA + acetoacetate
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stereochemistry
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-
?
(S)-3-Hydroxy-3-methylglutaryl-CoA
Acetyl-CoA + acetoacetate
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-
-
-
?
(S)-3-Hydroxy-3-methylglutaryl-CoA
Acetyl-CoA + acetoacetate
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-
-
?
(S)-3-Hydroxy-3-methylglutaryl-CoA
Acetyl-CoA + acetoacetate
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-
-
-
?
(S)-3-Hydroxy-3-methylglutaryl-CoA
Acetyl-CoA + acetoacetate
Penicillium brevicompactum ATCC 16024
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-
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?
(S)-3-Hydroxy-3-methylglutaryl-CoA
Acetyl-CoA + acetoacetate
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-
-
-
?
(S)-3-Hydroxy-3-methylglutaryl-CoA
Acetyl-CoA + acetoacetate
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-
-
-
?
(S)-3-Hydroxy-3-methylglutaryl-CoA
Acetyl-CoA + acetoacetate
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-
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ir
(S)-3-Hydroxy-3-methylglutaryl-CoA
Acetyl-CoA + acetoacetate
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-
-
?
(S)-3-Hydroxy-3-methylglutaryl-CoA
Acetyl-CoA + acetoacetate
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stereochemistry
-
-
?
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NATURAL SUBSTRATE
NATURAL PRODUCT
REACTION DIAGRAM
ORGANISM
UNIPROT
COMMENTARY
(Substrate)
(Substrate)
LITERATURE
(Substrate)
(Substrate)
COMMENTARY
(Product)
(Product)
LITERATURE
(Product)
(Product)
REVERSIBILITY
r=reversible
ir=irreversible
?=not specified
r=reversible
ir=irreversible
?=not specified
(S)-3-Hydroxy-3-methylglutaryl-CoA
?
-
involved in ketogenesis, leucine catabolism
-
-
?
(S)-3-Hydroxy-3-methylglutaryl-CoA
?
-
involved in ketogenesis, leucine catabolism
-
-
?
(S)-3-Hydroxy-3-methylglutaryl-CoA
?
-
involved in regulation of isoprenoid pathway
-
-
?
(S)-3-Hydroxy-3-methylglutaryl-CoA
?
-
involved in ketogenesis, leucine catabolism
-
-
?
(S)-3-Hydroxy-3-methylglutaryl-CoA
?
-
acetoacetate as fuel for extrahepatic tissues, involved in mevalonate synthesis
-
-
?
(S)-3-Hydroxy-3-methylglutaryl-CoA
Acetyl-CoA + acetoacetate
-
-
-
-
?
(S)-3-Hydroxy-3-methylglutaryl-CoA
Acetyl-CoA + acetoacetate
-
-
-
-
?
(S)-3-Hydroxy-3-methylglutaryl-CoA
Acetyl-CoA + acetoacetate
Penicillium brevicompactum ATCC 16024
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-
-
-
?
(S)-3-Hydroxy-3-methylglutaryl-CoA
Acetyl-CoA + acetoacetate
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-
-
?
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METALS and IONS
ORGANISM
UNIPROT
COMMENTARY
LITERATURE
Bivalent cations
Cu2+
Mg2+
Mn2+
additional information
Mg2+
-
possibly involved in coordination of the thioesther carbonyl during catalysis, also stimulates acetyl-CoA enolization
Mg2+
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required, Km for wild-type HMGCL is 0.233 mM and for HMGCL mutant C323A 0.322 mM
Mg2+
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required, Km of wild-type HMGCLL1 is 0.049 mM and for HMGCLL1 mutant G2A 0.088 mM
Mn2+
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required, Km for wild-type HMGCL is 0.00034 mM and for HMGCL mutant C323A 0.00037 mM
Mn2+
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required, Km of wild-type HMGCLL1 is 0.00018 mM and for HMGCLL1 mutant G2A 0.00024 mM
additional information
reaction mechanism involves an invariant Asp-Arg-Glu (DRE)triplet. The Asp ligates the divalent cation, the Arg probably stabilizes charge accumulation in the enolate intermediate, and the Glu maintains the precise structural alignment of the Asp and Arg
additional information
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reaction mechanism involves an invariant Asp-Arg-Glu (DRE)triplet. The Asp ligates the divalent cation, the Arg probably stabilizes charge accumulation in the enolate intermediate, and the Glu maintains the precise structural alignment of the Asp and Arg
additional information
reaction mechanism involves an invariant Asp-Arg-Glu (DRE)triplet. The Asp ligates the divalent cation, the Arg probably stabilizes charge accumulation in the enolate intermediate, and the Glu maintains the precise structural alignment of the Asp and Arg
additional information
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reaction mechanism involves an invariant Asp-Arg-Glu (DRE)triplet. The Asp ligates the divalent cation, the Arg probably stabilizes charge accumulation in the enolate intermediate, and the Glu maintains the precise structural alignment of the Asp and Arg
additional information
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identification of His233, His235, ASp42, and Asn275 as metal-binding ligands
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INHIBITOR
ORGANISM
UNIPROT
COMMENTARY
LITERATURE
IMAGE
(-)-epigallocatechin gallate
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a mixed-type noncompetitive inhibitor, contribution of the gallyl moiety, which forms a hexa-coordination complex with the Mg2+ ion, to enzymatic inhibition
4-Methylnitrobenzene sulfonate
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sensitivity to inactivation depends on redox state of enzyme, Kinact: 0.178 min-1, reduced, 0.028 min 1, oxidized
2-butynoyl-CoA
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sensitivity to inactivation depends on redox state of enzyme, Kinact: 0.22 min-1, reduced, 0.03 min 1, oxidized
2-butynoyl-CoA
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active-site inhibition, only recombinant wild-type, not C237 mutants, indication of active-site directed mutagenesis
additional information
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99% inactivation after air-oxidation, various sulfhydryl-directed agents
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additional information
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C323 involved in intersubunit cross-linking upon oxidative inactivation, thiol-disulfide exchange mechanism
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additional information
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no inhibition by daidzein, hesperetin, naringenin, (+)-catechin, and (-)-epicatechin
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ACTIVATING COMPOUND
ORGANISM
UNIPROT
COMMENTARY
LITERATURE
IMAGE
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DISEASE
TITLE OF PUBLICATION
LINK TO PUBMED
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.
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]
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.
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).
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
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: 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 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 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
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
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.
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.