medium-chain acyl-CoA dehydrogenase
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 ...
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Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: regional experience and high incidence of carnitine deficiency
... Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is the most common inherited fatty acid β- oxidation (FAO) defect and is a potentially fatal ...
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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
... Medium-chain acyl-CoA dehydrogenase (MCAD) defi- ciency is a fatty acid beta-oxidation disorder with an esti- mated birth prevalence of approximately 1:5000 to 1:20,000 in North America ...
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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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A novel mutation in medium chain acyl CoA dehydrogenase causes sudden neonatal death
... Medium chain acyl-CoA dehydrogenase (MCAD) deficiency is the most common known genetic disorder of fatty acid oxidation. Most (approximately 80%) cases are homozygous for a single ...
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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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Screening for medium-chain acyl CoA dehydrogenase deficiency: current perspectives
... Abstract: Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is the most common disorder associated with fatty acid oxidation. The disorder is characterized by inability to generate ...
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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 ...
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In vitro and in vivo consequences of variant medium-chain acyl-CoA dehydrogenase genotypes
... Figure 1. In 7 of these subjects MCAD enzyme analyses were performed in leukocytes with three different sub- strates: C6-CoA, C6-CoA + C4-CoA, and PP-CoA. Irre- spective of the substrate, ...
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Newborn Screening by Tandem Mass Spectrometry for Medium-Chain Acyl-CoA Dehydrogenase Deficiency: A Cost-Effectiveness Analysis
... Variables as- sessed included the MCADD prevalence (range: 1/10 000 –1/ 50 000); the proportion of MCADD patients that are asymptomatic (0%–90%), test sensitivity (0.95–1.0) and specific[r] ...
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The first three years of screening for medium chain acyl-CoA dehydrogenase deficiency (MCADD) by newborn screening ontario
... for confirmation in a clinical setting [1]. Biochemical, cellular and genotypic characterization of screen positive cases varied amongst the Treatment Centres across the province. In general, infants were classified as ...
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Efficacy and outcome of expanded newborn screening for metabolic diseases - Report of 10 years from South-West Germany *
... with medium-chain acyl- CoA dehydrogenase deficiency genotype was known for 28 ...with medium-chain acyl-CoA dehydrogen- ase deficiency who showed severe ...
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Economics of tandem mass spectrometry screening of neonatal inherited disorders
... Cost-effectiveness acceptability curves for phenylketonuria PKU plus medium-chain acyl-coA dehydrogenase MCAD deficiency screening using tandem mass spectrometry MS compared with convent[r] ...
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Molecular basis of medium chain acyl coenzyme A dehydrogenase deficiency An A to G transition at position 985 that causes a lysine 304 to glutamate substitution in the mature protein is the single prevalent mutation
... polymerase chain reaction (PCR)-amplified variant medium chain acyl-CoA dehydrogenase (MCAD) cDNAs in cultured fibroblasts from three MCAD-deficient ...
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Genetic deficiency of short chain acyl coenzyme A dehydrogenase in cultured fibroblasts from a patient with muscle carnitine deficiency and severe skeletal muscle weakness
... that medium-chain acyl-CoA dehydrogenase accounted for 50% of the activity towards the short-chain substrate, butyryl-CoA, under these conditions, but that antibody ...
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Clinical and genetic characteristics of patients with fatty acid oxidation disorders identified by newborn screening
... very-long-chain acyl-CoA dehydrogenase (VLCAD) deficiency, 5 with medium chain acyl-CoA dehydrogenase (MCAD) deficiency, 1 with primary carnitine deficiency, ...
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Child Neurology: Medium-chain acyl-coenzyme A dehydrogenase deficiency
... second dehydrogenase reaction to produce NADH and ...fatty acyl-CoA that is 2 carbons shorter and will undergo further oxidation until reduced entirely to ...of medium-chain ...
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The endogenous molecular clock orchestrates the temporal separation of substrate metabolism in skeletal muscle
... Acadm: acyl-Coenzyme A dehydrogenase, medium chain; Acly: ATP citrate lyase; Acot7: acyl-CoA thioesterase 7; Acot9: acyl-CoA thioesterase 9; Acsl1: ...
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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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Enhanced triacylglycerol production in the diatom Phaeodactylum tricornutum by inactivation of a Hotdog-fold thioesterase gene using TALEN-based targeted mutagenesis
... shorter chain length fatty acids by heterologous expression of plant-derived fatty acyl-ACP thioesterases [4], and enhanced accumulation of high-value omega-3 long- chain polyunsaturated fatty acids ...
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