Hydroxyacyl CoA dehydrogenase
(S)-3-hydroxyacyl-CoA dehydrogenase/enoyl-CoA hydratase (FadB’) from fatty acid degradation operon of Ralstonia eutropha H16
... 3-hydroxyacyl-CoA dehydrogenase and enoyl-CoA hydratase activities (Machado et ...3-hydroxyacyl-CoA dehydrogenase (PaaH1) from ...
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Evaluation of earlier versus later dietary management in long-chain 3-hydroxyacyl-CoA dehydrogenase or mitochondrial trifunctional protein deficiency: a systematic review
... 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency and mitochondrial trifunctional protein defi- ciency (MTPD) are rare autosomal recessive fatty acid β- oxidation ...a dehydrogenase, and a ...
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Common missense mutation G1528C in long chain 3 hydroxyacyl CoA dehydrogenase deficiency Characterization and expression of the mutant protein, mutation analysis on genomic DNA and chromosomal localization of the mitochondrial trifunctional protein alpha subunit gene
... 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency in man was first described in 1989 (4) and is now de- scribed in more than 15 patients (see 5 for review) although many remain to be reported (since ...
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Hyperinsulinism in short chain L 3 hydroxyacyl CoA dehydrogenase deficiency reveals the importance of β oxidation in insulin secretion
... FS suffered frequent, severe hypoglycemia. Three hypo- glycemia screens indicated definite HI (blood glucose <2.6 mM, plasma insulin >3 mU/l; ref. 20) as did the glucose requirement of 8 mg/kg/min (although many ...
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Fatal pitfalls in newborn screening for mitochondrial trifunctional protein (MTP)/long-chain 3-Hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency
... lactate dehydrogenase 1101 U/l, reference < 570 U/l), and severe hypertrophic cardiomyopathy (N-terminal brain natriuretic peptide 13,445 ng/l; refer- ence < 84 ...
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Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency: Clinical Presentation and Follow-Up of 50 Patients
... HELLP syndrome in a series of 29 affected pregnan- cies, although they also found an increased fre- quency of intrahepatic cholestasis, preeclampsia, and pregnancy-induced hypertension. The frequencies of AFLP and HELLP ...
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Hyperinsulinism in short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency reveals the importance of beta-oxidation in insulin secretion
... LCFA- CoA and increased esterification could induce inappro- priate insulin ...acyl-CoA dehydrogenase (VLCAD) deficiency, and in medium chain acyl-CoA dehydrogenase (MCAD) deficiency ...
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Leucine-sensitive hyperinsulinaemic hypoglycaemia in patients with loss of function mutations in 3-Hydroxyacyl-CoA Dehydrogenase
... Protein-sensitive HH, due to leucine sensitivity, is also known to be associated with the hyperinsulinism- hyperammonaemia syndrome (HI/HA syndrome) [5], a condition characterised by HH and asymptomatic hyper- ...
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Metabolic reprogramming involving glycolysis in the hibernating brown bear skeletal muscle
... of hydroxyacyl-CoA dehydrogenase (HADH) that we re- corded in muscles of hibernating bears further supports a slowing of the beta-oxidation ...
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Peroxisomal bifunctional enzyme deficiency
... hydratase/3-hydroxyacyl-CoA dehydrogenase) was deficient in postmortem liver samples, whereas acyl-CoA oxidase and the mature form of beta-ketothiolase were ...
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Deciphering the gene expression profile of peroxisome proliferator activated receptor signaling pathway in the left atria of patients with mitral regurgitation
... acyl-CoA dehydrogenase, C-4 to C-12 straight chain, APOA1 Apolipoprotein A-I, CPT1A carnitine palmitoyltransferase 1A (liver), CPT1B carnitine palmitoyltransferase 1B (muscle), CPT2 carnitine ...
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Weight loss-induced changes in adipose tissue proteins associated with fatty acid and glucose metabolism correlate with adaptations in energy expenditure
... 3-hydroxyacyl-CoA dehydrogenase (HADHsc) and fatty acid binding protein 4 (FABP4) were ...acyl-CoA dehydrogenase step of beta- oxidation ...
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Mitochondrial trifunctional protein deficiency Catalytic heterogeneity of the mutant enzyme in two patients
... 3-hydroxyacyl-CoA dehydrogenase, and 3-ketoacyl-CoA thiolase activity in cultured skin fibroblasts from two patients with long-chain 3-hydroxyacyl-CoA dehydrogenase ...
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Clinical and genetic characteristics of patients with fatty acid oxidation disorders identified by newborn screening
... acyl-CoA dehydrogenase (VLCAD) deficiency, 5 with medium chain acyl-CoA dehydrogenase (MCAD) deficiency, 1 with primary carnitine deficiency, 1 with carnitine palmitoyltransferase 1A (CPT1A) ...
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In vitro and in vivo consequences of variant medium-chain acyl-CoA dehydrogenase genotypes
... Residual MCAD enzyme activity was determined in leukocytes. Before 2007, a GC-MS based analysis using C6-CoA +/− butyryl-CoA (C4-CoA) as substrates was the standard in our centre [7,8]. The assay ...
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Medium-chain Acyl-CoA dehydrogenase deficiency presenting with neonatal pulmonary haemorrhage
... Medium-chain Acyl-CoA dehydrogenase deficiency (MCADD) is the most common inherited disorder of mitochondrial fatty acid beta-oxidation. The overall frequency of the disorder is highest in northern Europe ...
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Parental experiences of raising a child with medium chain Acyl CoA Dehydrogenase deficiency
... Newborn screening enabling early diagnosis of medium chain acyl-CoA dehydrogenase deficiency (MCADD) has dramatically improved health outcomes in children with MCADD. Achieving those outcomes depends on ...
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Spectrum of Medium-Chain Acyl-CoA Dehydrogenase Deficiency Detected by Newborn Screening
... The first 47 medium-chain acyl-CoA dehydrogenase deficiency cases de- tected by the New England Newborn Screening Program were classified according to initial and follow-up octanoylcarni[r] ...
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Biosynthesis of phlorisovalerophenone and 4-hydroxy-6-isobutyl-2-pyrone in Escherichia coli from glucose
... In this work, we engineered the synthesis of isovaleryl- CoA in E. coli by recruiting a biosynthetic pathway via hydroxy-3-methylglutaryl CoA (HMG-CoA), an inter- mediate of the mevalonate pathway ...
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Cost-effectiveness analysis of universal newborn screening for medium chain acyl-CoA dehydrogenase deficiency in France
... Background: Five diseases are currently screened on dried blood spots in France through the national newborn screening programme. Tandem mass spectrometry (MS/MS) is a technology that is increasingly used to screen ...
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