3-hydroxyacyl-CoA dehydrogenase
Evaluation of earlier versus later dietary management in long-chain 3-hydroxyacyl-CoA dehydrogenase or mitochondrial trifunctional protein deficiency: a systematic review
... Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency and mitochondrial trifunctional protein defi- ciency (MTPD) are rare autosomal recessive fatty acid β- oxidation ...a ...
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(S)-3-hydroxyacyl-CoA dehydrogenase/enoyl-CoA hydratase (FadB’) from fatty acid degradation operon of Ralstonia eutropha H16
... both 3-hydroxyacyl-CoA dehydrogenase and enoyl-CoA hydratase activities (Machado et ...another 3-hydroxyacyl-CoA dehydrogenase (PaaH1) from ...
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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
... Long-chain 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 ...
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Fatal pitfalls in newborn screening for mitochondrial trifunctional protein (MTP)/long-chain 3-Hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency
... Patient 1 and 2 showed newborn screening results which were clearly indicative for MTP/LCHAD deficiency. Confirmatory testing was initiated by the maternity clinic and consisted of repeat analysis of acylcarnitines in ...
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Hyperinsulinism in short chain L 3 hydroxyacyl CoA dehydrogenase deficiency reveals the importance of β oxidation in insulin secretion
... Acylcarnitine analysis (electrospray ioniza- tion tandem mass spectrometry). A “pre- cursors of m/z 85” scan obtained on analysis of the patient’s blood spot is shown in Figure 1. The spectrum shows a clear peak of m/z ...
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Hyperinsulinism in short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency reveals the importance of beta-oxidation in insulin secretion
... FS was readmitted at 19 months because of recurrent hypoglycemia with fits. She had frequent episodes of hypoglycemia in the hospital. Once when the blood glucose was 2.3 mM, the plasma insulin was 2.6 mU/l, ...
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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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Leucine-sensitive hyperinsulinaemic hypoglycaemia in patients with loss of function mutations in 3-Hydroxyacyl-CoA Dehydrogenase
... A recent study [6] suggests the existence of an inter- action between HADH and glutamate dehydrogenase (GDH) in the pancreatic β -cell. Even more recently, studies on hadh − / − mice have confirmed this in pan- ...
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Energy exchangers with LCT as a precision method for diet control in LCHADD
... Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is a rare genetic disease. The LCHADD treatment is mainly based on special diet. In this diet, energy from long-chain ...
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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
... chain 3-hydroxyacyl-CoA dehydrogenase (HADHsc) and fatty acid binding protein 4 (FABP4) were ...acyl-CoA dehydrogenase step of beta- oxidation ...
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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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Mitochondrial trifunctional protein deficiency Catalytic heterogeneity of the mutant enzyme in two patients
... hydratase, 3-hydroxyacyl-CoA dehydrogenase, and 3-ketoacyl-CoA thiolase activity in cultured skin fibroblasts from two patients with long-chain ...
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Metabolic reprogramming involving glycolysis in the hibernating brown bear skeletal muscle
... and 3). The decreased activity 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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Succinyl-CoA:3-Ketoacid CoA- Transferase Deficiency
... The treatment consists of limitation of the protein intake, the provision of adequate calories, and an effort to prevent aggravation of the ketosis by giving alkaline therapy at the onset of any intercurrent in- fection. ...
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Novel drugs that target the metabolic reprogramming in renal cell cancer
... drug 3-bromopyruvate (3- BrPa) is a second drug that interferes with hexokinase ...hexokinase, 3-BrPa is believed to inter- fere directly with its enzymatic activity and covalently bind hexokinase 2, ...
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The dilemma for lipid productivity in green microalgae: importance of substrate provision in improving oil yield without sacrificing growth
... [95, 112]. Nevertheless, there is conflicting evidence regarding the dependence on OPPP to sufficiently meet the demands for FA synthesis. Brassica napus and maize embryos demonstrated 10 and 36% of carbon influx to ...
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Clinical outcome, biochemical and therapeutic follow-up in 14 Austrian patients with Long-Chain 3-Hydroxy Acyl CoA Dehydrogenase Deficiency (LCHADD)
... Long-chain 3-hydroxy acyl CoA dehydrogenase defi- ciency (LCHADD) (OMIM #609016) is an autosomal recessively inherited disorder of long-chain fatty acid oxidation with an estimated overall frequency ...
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Deficiency of 3 methylglutaconyl coenzyme A hydratase in two siblings with 3 methylglutaconic aciduria
... with 3-methylglutaconic aciduria in order to determine the molecular ...for 3-methylglutaconyl-coenzyme A (CoA) hydratase has been developed in which the substrate, ...
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