Hydroxyacyl-CoA dehydrogenase deficiency
Hyperinsulinism in short chain L 3 hydroxyacyl CoA dehydrogenase deficiency reveals the importance of β oxidation in insulin secretion
... LCFA- CoA and increased esterification could induce inappro- priate insulin ...LCHAD deficiency, in very long chain acyl-CoA dehydrogenase (VLCAD) deficiency, and in medium chain ...
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Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency: Clinical Presentation and Follow-Up of 50 Patients
... Nineteen (38%) of the 50 patients were already deceased at the time of the study. Mortality in pa- tients presenting with acute hypoglycemia (15/39, 38%) did not differ significantly from that in patients presenting with ...
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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 ...LCHAD deficiency, in very long chain acyl-CoA dehydrogenase (VLCAD) deficiency, and in medium chain ...
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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 ...
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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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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 ...
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Leucine-sensitive hyperinsulinaemic hypoglycaemia in patients with loss of function mutations in 3-Hydroxyacyl-CoA Dehydrogenase
... was not seen in − / − liver or kidney which resulted in a 50 % increase in enzyme efficiency. This increase in en- zyme efficiency shown in pancreas may be due to the fact that HADH is so highly expressed [1] in this ...
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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 ...MTP deficiency can ...
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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 ...
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Short-Chain Acyl-CoA Dehydrogenase Deficiency: Studies in a Large Family Adding to the Complexity of the Disorder
... acyl-CoA dehydrogenase in lymphocytes or fibroblasts was measured using a high-performance liquid chromatography ...l-3- hydroxyacyl-CoA ...
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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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Production of 3 hydroxypropionate from biomass
... Biorenewable technology is a developing field of science that researches alternative sources for petroleum products like fuels, plastics, paints, etc. The DoE biomass program has identified the 12 top chemicals that can ...
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Health services use among children diagnosed with medium-chain acyl-CoA dehydrogenase deficiency through newborn screening: a cohort study in Ontario, Canada
... We separately summed physician encounters, ED visits and hospitalizations for each child. We calculated each child’ s length of follow-up as the time between date of birth and the earliest end points among the following: ...
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Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: regional experience and high incidence of carnitine deficiency
... In conclusion, our study points to that the ACADM genotype most commonly seen in MCADD might be of particular relevance in refining a follow-up protocol, since plasma carnitine levels in patients homozygous for ...
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Prolonged exercise testing in two children with a mild Multiple Acyl-CoA-Dehydrogenase deficiency
... During the prolonged exercise test the fatty acid oxidation (FAO) was quite low compared to 5 control subjects, while characteristic metabolites of MADD appeared in plasma and urine.. Co[r] ...
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Bent spine syndrome as an initial manifestation of late-onset multiple acyl-CoA dehydrogenase deficiency: a case report and literature review
... Genetic screening was performed in the alpha ETF (ETFA), beta ETF (ETFB), and ETF dehydrogenase (ETFDH) genes. A common mutation C.770A>G (p.T257C) in Chinese population was identified in exon 7 of the ETFDH ...
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Clinical and genetical heterogeneity of late-onset multiple acyl-coenzyme A dehydrogenase deficiency
... clinical trial of bezafibrate was performed in the same patient, a 2-year-old boy, and resulted in a dramatical improve of his motor and cognitive skills in combination with a reduction of C4, C8, C10 and C12 ...
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Carnitine acylcarnitine translocase deficiency with severe hypoglycemia and auriculo ventricular block Translocase assay in permeabilized fibroblasts
... hypoketotic hypoglycemia. We describe here carnitine-acylcarnitine translocase deficiency in a neonate who died eight days after birth. The proband showed severe fasting-induced hypoketotic hypoglycemia, high ...
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Economics of tandem mass spectrometry screening of neonatal inherited disorders
... At the same time as our review of evidence was under way, the Department of Health National Screening Commit- tee commissioned a 5-year pilot study on the clinical and economic implications of extending neonatal ...
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An international review of the cost effectiveness of expanded neonatal bloodspot screening and its implications for the Netherlands : (heel)Pricking Babies around the Globe
... MediumChain Acyl-CoA Dehydrogenase Deficiency MethylMalonic Acidemia Ministry of Health Mental Retardation Avoided Tandem mass spectrometry Maple Syrup Urine Disease Newborn Bloodspot Sc[r] ...
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