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Disease on EC 1.1.1.35 - 3-hydroxyacyl-CoA dehydrogenase

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DISEASE
TITLE OF PUBLICATION
LINK TO PUBMED
3-hydroxyacyl-coa dehydrogenase deficiency
3-Hydroxyacyl-Coenzyme A Dehydrogenase Deficiency and Hyperinsulinaemic Hypoglycaemia: Characterization of a Novel Mutation and Severe Dietary Protein Sensitivity.
3-hydroxyacyl-coenzyme a dehydrogenase deficiency: identification of a new mutation causing hyperinsulinemic hypoketotic hypoglycemia, altered organic acids and acylcarnitines concentrations.
3-Hydroxydicarboxylic aciduria due to long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency associated with sudden neonatal death: protective effect of medium-chain triglyceride treatment.
A fetal fatty-acid oxidation disorder as a cause of liver disease in pregnant women.
A novel HPLC-based method to diagnose peroxisomal D-bifunctional protein enoyl-CoA hydratase deficiency.
Acute fatty liver of pregnancy and long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency.
Acute fatty liver of pregnancy, hemolysis, elevated liver enzymes, and low platelets syndrome, and long chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency.
Biochemical characterization and crystal structure determination of human heart short chain L-3-hydroxyacyl-CoA dehydrogenase provide insights into catalytic mechanism.
Clinical and image-guided chorioretinal findings in long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency.
Clinical and neurophysiologic response of myopathy and neuropathy in long-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency to oral prednisone.
Clinical course and cardiovascular outcomes in patients with the long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency.
Clinical outcomes in long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency.
Diagnosis of a patient with a kinetic variant of medium and short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency by newborn screening.
Disorders of mitochondrial long-chain fatty acid oxidation.
Evidence that 3-hydroxyisobutyric acid inhibits key enzymes of energy metabolism in cerebral cortex of young rats.
Fatty acid transport and mitochondrial oxidation disorders.
Fetal fatty acid oxidation disorders, their effect on maternal health and neonatal outcome: impact of expanded newborn screening on their diagnosis and management.
Heterozygosity for long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency and deterioration in liver function in a newborn infant infected with human immunodeficiency virus.
Hyperinsulinism in short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency reveals the importance of beta-oxidation in insulin secretion.
Hypoparathyroidism in a patient with long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency caused by the G1528C mutation.
Impaired Fat Oxidation During Exercise in Long-Chain Acyl-CoA Dehydrogenase Deficiency Patients and Effect of IV-Glucose.
Inherited metabolic diseases affecting the carrier.
L-3-hydroxyacyl-CoA dehydrogenase deficiency: two cases with pigmentary retinopathy.
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and early-onset liver cirrhosis in two siblings.
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: a severe fatty acid oxidation disorder.
Long-chain 3-hydroxyacyl-CoA dehydrogenase in chorionic villi, fetal liver and fibroblasts and prenatal diagnosis of 3-hydroxyacyl-CoA dehydrogenase deficiency.
Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency and cardiogenic shock.
Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency with the G1528C mutation: clinical presentation of thirteen patients.
Marked elevation of urinary 3-hydroxydecanedioic acid in a malnourished infant with glycogen storage disease, mimicking long-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency.
Mechanism of hyperinsulinism in short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency involves activation of glutamate dehydrogenase.
Mitochondrial respiratory chain complex I deficiency with clinical and biochemical features of long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency.
Ochrobactrum anthropi bacteremia in a child with inborn error of mitochondrial fatty acid oxidation.
Pigmentary retinopathy in long chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency.
Placental floor infarction complicating the pregnancy of a fetus with long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency.
Pregnancy complications are frequent in long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency.
Progressive neuropathy and recurrent myoglobinuria in a child with long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency.
Prospective screening for pediatric mitochondrial trifunctional protein defects in pregnancies complicated by liver disease.
Quantitative measurement of total and free 3-hydroxy fatty acids in serum or plasma samples: short-chain 3-hydroxy fatty acids are not esterified.
Role of short-chain hydroxyacyl CoA dehydrogenases in SCHAD deficiency.
Short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency associated with hyperinsulinism: a novel glucose-fatty acid cycle?
Short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: the clinical relevance of an early diagnosis and report of four new cases.
Short-chain 3-hydroxyacyl-CoA dehydrogenase is a negative regulator of insulin secretion in response to fuel and non-fuel stimuli in INS832/13 ?-cells.
Short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency in muscle: a new cause for recurrent myoglobinuria and encephalopathy.
Skin fibroblast carnitine uptake in secondary carnitine deficiency disorders.
Stability of long-chain and short-chain 3-hydroxyacyl-CoA dehydrogenase activity in postmortem liver.
Stable pigmentary retinopathy in a child with 3-hydroxyacyl-CoA dehydrogenase deficiency.
Structural organization of the human short-chain L-3-hydroxyacyl-CoA dehydrogenase gene.
Ten year follow up of pigmentary retinopathy associated with 3-hydroxyacyl-CoA dehydrogenase deficiency.
The clinical spectrum of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.
The L-3-hydroxyacyl-CoA dehydrogenase deficiency.
[Long chain 3-hydroxyacyl-coA dehydrogenase deficiency, asociation with HELLP and magnetic resonance spectroscopy findings].
[Long-chain 3-hydroxyacyl-coenzyme a dehydrogenase deficiency and cardiomyopathy]
Adrenoleukodystrophy
Inherited metabolic diseases affecting the carrier.
Alzheimer Disease
Human brain short chain L-3-hydroxyacyl coenzyme A dehydrogenase is a single-domain multifunctional enzyme. Characterization of a novel 17beta-hydroxysteroid dehydrogenase.
Role of type 10 17beta-hydroxysteroid dehydrogenase in the pathogenesis of Alzheimer's disease.
Anemia, Sickle Cell
Prepregnancy testing for single-gene disorders by polar body analysis.
Bacteremia
Ochrobactrum anthropi bacteremia in a child with inborn error of mitochondrial fatty acid oxidation.
Brain Diseases
Short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency in muscle: a new cause for recurrent myoglobinuria and encephalopathy.
Breast Neoplasms
Impact of 17?-HSD12, the 3-ketoacyl-CoA reductase of long-chain fatty acid synthesis, on breast cancer cell proliferation and migration.
Carcinogenesis
Increased EHHADH Expression Predicting Poor Survival of Osteosarcoma by Integrating Weighted Gene Coexpression Network Analysis and Experimental Validation.
Carcinoma, Embryonal
Isolation of a cDNA clone encoding mouse 3-hydroxyacyl CoA dehydrogenase.
Cardiomyopathies
Mitochondrial respiratory chain complex I deficiency with clinical and biochemical features of long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency.
[Long-chain 3-hydroxyacyl-coenzyme a dehydrogenase deficiency and cardiomyopathy]
Cardiomyopathy, Dilated
Medium-Chain Acyl-CoA Dehydrogenase Deficiency in an Infant with Dilated Cardiomyopathy.
carnitine o-palmitoyltransferase deficiency
Neonatal metabolic myopathies.
Cataract
Inherited metabolic diseases affecting the carrier.
Cholestasis
Maternal susceptibility locus for obstetric cholestasis maps to chromosome region 2p13 in Finnish patients.
Confusion
The effect of respiratory chain impairment of beta-oxidation in rat heart mitochondria.
Congenital Hyperinsulinism
Functional genomics of the beta-cell: short-chain 3-hydroxyacyl-coenzyme A dehydrogenase regulates insulin secretion independent of K+ currents.
Hyperinsulinism in infancy and childhood: when an insulin level is not always enough.
Mechanisms of amino acid-stimulated insulin secretion in congenital hyperinsulinism.
Mechanisms of Disease: advances in diagnosis and treatment of hyperinsulinism in neonates.
The Hypoglycemic Phenotype is Islet Cell-Autonomous in Short-chain Hydroxyacyl-CoA Dehydrogenase (SCHAD) Deficient Mice.
[Hyperinsulinism in infancy and childhood: when an insulin level is not always enough.]
Cystic Fibrosis
Prepregnancy testing for single-gene disorders by polar body analysis.
Cytochrome-c Oxidase Deficiency
Neonatal metabolic myopathies.
Skin fibroblast carnitine uptake in secondary carnitine deficiency disorders.
Dehydration
Characterization of a {beta}-hydroxybutyryl-CoA dehydrogenase from Mycobacterium tuberculosis.
Diabetes Mellitus, Type 2
Rat heart fatty acid-binding protein content is increased in experimental diabetes.
The HADHSC gene encoding short-chain L-3-hydroxyacyl-CoA dehydrogenase (SCHAD) and type 2 diabetes susceptibility: the DAMAGE study.
enoyl-coa hydratase deficiency
A novel HPLC-based method to diagnose peroxisomal D-bifunctional protein enoyl-CoA hydratase deficiency.
Fatty Liver
Acute fatty liver of pregnancy and long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency.
Acute fatty liver of pregnancy and neonatal long-chain 3-hydroxyacyl-coenzyme A dehydrogenase (LCHAD) deficiency.
Acute fatty liver of pregnancy associated with short-chain acyl-coenzyme A dehydrogenase deficiency.
Acute fatty liver of pregnancy in a woman with ulcerative colitis and familial hidradenitis suppurativa.
Acute fatty liver of pregnancy, hemolysis, elevated liver enzymes, and low platelets syndrome, and long chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency.
beta-Oxidation in human alcoholic and non-alcoholic hepatic steatosis.
Maternal acute fatty liver of pregnancy and the associated risk for long-chain 3-hydroxyacyl-coenzyme a dehydrogenase (LCHAD) deficiency in infants.
Fatty Liver, Alcoholic
beta-Oxidation in human alcoholic and non-alcoholic hepatic steatosis.
Fetal Death
Acute fatty liver of pregnancy and neonatal long-chain 3-hydroxyacyl-coenzyme A dehydrogenase (LCHAD) deficiency.
galactokinase deficiency
Inherited metabolic diseases affecting the carrier.
Galactosemias
Inherited metabolic diseases affecting the carrier.
Gaucher Disease
Prepregnancy testing for single-gene disorders by polar body analysis.
Glycogen Storage Disease
Marked elevation of urinary 3-hydroxydecanedioic acid in a malnourished infant with glycogen storage disease, mimicking long-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency.
Metabolic myopathies.
Neonatal metabolic myopathies.
Glycogen Storage Disease Type V
Increased muscular beta-hydroxyacyl CoA dehydrogenase with McArdle's disease.
Hamartoma Syndrome, Multiple
Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase (L-CHAD) deficiency in a patient with the Bannayan-Riley-Ruvalcaba syndrome.
Long-chain L 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency does not appear to be the primary cause of lipid myopathy in patients with Bannayan-Riley-Ruvalcaba syndrome (BRRS).
Heart Failure
Contribution of intrinsic skeletal muscle changes to 31P NMR skeletal muscle metabolic abnormalities in patients with chronic heart failure.
HELLP Syndrome
Inherited metabolic diseases affecting the carrier.
Hemophilia B
Prepregnancy testing for single-gene disorders by polar body analysis.
Hepatomegaly
Amino acid and nucleotide sequences of human peroxisomal enoyl-CoA hydratase: 3-hydroxyacyl-CoA dehydrogenase cDNA.
Homocystinuria
Inherited metabolic diseases affecting the carrier.
Hyperinsulinism
Dominantly inherited hyperinsulinaemic hypoglycaemia.
Hyperinsulinism in short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency reveals the importance of beta-oxidation in insulin secretion.
Hyperinsulinism of infancy associated with a novel splice site mutation in the SCHAD gene.
Insights in congenital hyperinsulinism.
Mechanism of hyperinsulinism in short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency involves activation of glutamate dehydrogenase.
Short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency associated with hyperinsulinism: a novel glucose-fatty acid cycle?
Short-chain 3-hydroxyacyl-CoA dehydrogenase is a negative regulator of insulin secretion in response to fuel and non-fuel stimuli in INS832/13 ?-cells.
Short-chain 3-hydroxyacyl-coenzyme A dehydrogenase associates with a protein super-complex integrating multiple metabolic pathways.
Hypoglycemia
3-hydroxyacyl-coenzyme a dehydrogenase deficiency: identification of a new mutation causing hyperinsulinemic hypoketotic hypoglycemia, altered organic acids and acylcarnitines concentrations.
Acute fatty liver of pregnancy and neonatal long-chain 3-hydroxyacyl-coenzyme A dehydrogenase (LCHAD) deficiency.
Genome-Wide Homozygosity Analysis Reveals HADH Mutations as a Common Cause of Diazoxide-Responsive Hyperinsulinemic-Hypoglycemia in Consanguineous Pedigrees.
Novel insights into fatty acid oxidation, amino acid metabolism, and insulin secretion from studying patients with loss of function mutations in 3-hydroxyacyl-CoA dehydrogenase.
Short-chain 3-hydroxyacyl-CoA dehydrogenase is a negative regulator of insulin secretion in response to fuel and non-fuel stimuli in INS832/13 ?-cells.
Specificity in beta cell expression of L-3-hydroxyacyl-CoA dehydrogenase, short chain, and potential role in down-regulating insulin release.
Hypokinesia
Effect of spontaneous recovery or retraining after hindlimb suspension on aerobic capacity.
Hypoparathyroidism
Hypoparathyroidism in a patient with long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency caused by the G1528C mutation.
Insulin Resistance
GLUT4 and Glycogen Synthase Are Key Players in Bed Rest-Induced Insulin Resistance.
Muscle oxidative capacity is a better predictor of insulin sensitivity than lipid status.
Insulinoma
Functional genomics of the beta-cell: short-chain 3-hydroxyacyl-coenzyme A dehydrogenase regulates insulin secretion independent of K+ currents.
Intermittent Claudication
Muscle enzyme adaptation in patients with peripheral arterial insufficiency: spontaneous adaptation, effect of different treatments and consequences on walking performance.
Iron Deficiencies
Perturbation of mitochondrial composition in muscle by iron deficiency. Implications regarding regulation of mitochondrial assembly.
Leptospirosis
Leptospiral 3-hydroxyacyl-CoA dehydrogenase as an early urinary biomarker of leptospirosis.
Liver Cirrhosis
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and early-onset liver cirrhosis in two siblings.
Liver Diseases
Hepatic carnitine palmitoyltransferase I deficiency presenting as maternal illness in pregnancy.
Liver Failure
Mitochondrial respiratory chain complex I deficiency with clinical and biochemical features of long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Accumulation of 3-hydroxy-fatty acids in the culture medium of long-chain L-3-hydroxyacyl CoA dehydrogenase (LCHAD) and mitochondrial trifunctional protein-deficient skin fibroblasts: implications for medium chain triglyceride dietary treatment of LCHAD deficiency.
Mitochondrial trifunctional protein deficiency. Catalytic heterogeneity of the mutant enzyme in two patients.
Mutations in Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase are Associated with Placental Maternal Floor Infarction/Massive Perivillous Fibrin Deposition.
Malnutrition
Marked elevation of urinary 3-hydroxydecanedioic acid in a malnourished infant with glycogen storage disease, mimicking long-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency.
Metabolic Diseases
Biochemical characterization and crystal structure determination of human heart short chain L-3-hydroxyacyl-CoA dehydrogenase provide insights into catalytic mechanism.
Evidence that 3-hydroxyisobutyric acid inhibits key enzymes of energy metabolism in cerebral cortex of young rats.
Muscle Hypotonia
Amino acid and nucleotide sequences of human peroxisomal enoyl-CoA hydratase: 3-hydroxyacyl-CoA dehydrogenase cDNA.
Neonatal metabolic myopathies.
Muscular Diseases
Clinical and neurophysiologic response of myopathy and neuropathy in long-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency to oral prednisone.
Long-chain L 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency does not appear to be the primary cause of lipid myopathy in patients with Bannayan-Riley-Ruvalcaba syndrome (BRRS).
Myocardial Infarction
[Adaptation in properties of skeletal muscle to coronary artery occlusion/reperfusion in rats]
Myoglobinuria
Metabolic myopathies.
Neonatal metabolic myopathies.
Progressive neuropathy and recurrent myoglobinuria in a child with long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency.
Short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency in muscle: a new cause for recurrent myoglobinuria and encephalopathy.
nadh:ubiquinone reductase (h+-translocating) deficiency
Mitochondrial respiratory chain complex I deficiency with clinical and biochemical features of long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency.
Neoplasms
Glucose tolerance in relation to skeletal muscle enzyme activities in cancer patients.
Increased EHHADH Expression Predicting Poor Survival of Osteosarcoma by Integrating Weighted Gene Coexpression Network Analysis and Experimental Validation.
Obesity
Adipocyte differentiation is regulated by mitochondrial trifunctional protein ?-subunit via sirtuin 1.
ornithine carbamoyltransferase deficiency
Inherited metabolic diseases affecting the carrier.
Ornithine Carbamoyltransferase Deficiency Disease
Inherited metabolic diseases affecting the carrier.
Paraparesis, Spastic
Inherited metabolic diseases affecting the carrier.
Parkinson Disease
L-3-hydroxyacyl-CoA dehydrogenase II protects in a model of Parkinson's disease.
Perinatal Death
3-Hydroxydicarboxylic aciduria due to long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency associated with sudden neonatal death: protective effect of medium-chain triglyceride treatment.
Peripheral Nervous System Diseases
Disorders of mitochondrial long-chain fatty acid oxidation.
Phenylketonurias
Prepregnancy testing for single-gene disorders by polar body analysis.
Pregnancy Complications
Acute fatty liver of pregnancy associated with short-chain acyl-coenzyme A dehydrogenase deficiency.
Fetal fatty acid oxidation disorders, their effect on maternal health and neonatal outcome: impact of expanded newborn screening on their diagnosis and management.
Pregnancy complications are frequent in long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency.
Protein Deficiency
D-bifunctional protein deficiency: a cause of neonatal onset seizures and hypotonia.
Fetal fatty acid oxidation disorders, their effect on maternal health and neonatal outcome: impact of expanded newborn screening on their diagnosis and management.
Neonatal metabolic myopathies.
Retinitis Pigmentosa
Disorders of mitochondrial long-chain fatty acid oxidation.
L-3-hydroxyacyl-CoA dehydrogenase deficiency: two cases with pigmentary retinopathy.
Pigmentary retinopathy in long chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency.
Stable pigmentary retinopathy in a child with 3-hydroxyacyl-CoA dehydrogenase deficiency.
Ten year follow up of pigmentary retinopathy associated with 3-hydroxyacyl-CoA dehydrogenase deficiency.
Rhabdomyolysis
Impaired Fat Oxidation During Exercise in Long-Chain Acyl-CoA Dehydrogenase Deficiency Patients and Effect of IV-Glucose.
Seizures
Seizure-induced impairment in neuronal ketogenesis: Role of zinc-?2-glycoprotein in mitochondria.
Shock, Cardiogenic
Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency and cardiogenic shock.
Starvation
Metabolic changes in the African fruit beetle, Pachnoda sinuata, during starvation.
Thalassemia
Prepregnancy testing for single-gene disorders by polar body analysis.
Tuberculosis
Characterization of a {beta}-hydroxybutyryl-CoA dehydrogenase from Mycobacterium tuberculosis.
Crystal structure of Mycobacterium tuberculosis FadB2 implicated in mycobacterial ?-oxidation.
Vascular Diseases
Inherited metabolic diseases affecting the carrier.
Zellweger Syndrome
Amino acid and nucleotide sequences of human peroxisomal enoyl-CoA hydratase: 3-hydroxyacyl-CoA dehydrogenase cDNA.
Peroxisomal beta-oxidation enzyme proteins in the Zellweger syndrome.