medium chain acyl dehydrogenase
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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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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Prolonged QTc Interval in Association With Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency
... Very-long-chain acyl- coenzyme A dehydrogenase (VLCAD) de fi ciency has been associated with prolonged QTc intervals, and the acyl- carnitine pro fi le did show evolving increases in some of the ...
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Medium-chain Acyl-CoA dehydrogenase deficiency presenting with neonatal pulmonary haemorrhage
... The patient presented in this case report probably developed hypoglycaemia and encephalopathy on the second day of life, resulting in inadequate feeding and further deterioration of his neurological condition. These ...
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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 ...3-hydroxyacyl-CoA ...
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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 neurological and ...
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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 mutation: A ...
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Familial Reye-Like Syndrome: A Presentation of Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency
... Medium-chain acyl-coenzyme A (CoA) dehydro- genase deficiency is a recently described, autosomal recessive disorder of fatty acid oxidation that has a superficial similarity to Reye synd[r] ...
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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 and ...
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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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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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PPARα protein expression was increased by four weeks of intermittent hypoxic training via AMPKα2-dependent manner in mouse skeletal muscle
... the medium chain acyl coenzyme A dehydrogenase (MCAD) mRNA, the key enzyme for fatty acid oxidation and one of the PPAR α target genes, was also measured in skeletal mus- cles after the ...
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Sudden Child Death and `Healthy' Affected Family Members With Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency
... Reye syndrome-like attack has been reported as variable: a sudden, unexplained death,2 as well as a complete recovery without subsequent relapses, may occur.3 Hypoketotic hypoglycemia wi[r] ...
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The first three years of screening for medium chain acyl-CoA dehydrogenase deficiency (MCADD) by newborn screening ontario
... Infants with MCADD have insufficient activity of the enzyme required to catalyze the first step in the mito- chondrial beta-oxidation pathway for medium-chain fatty acids. This process is essential for ...
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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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Screening for medium-chain acyl CoA dehydrogenase deficiency: current perspectives
... of medium-chain fatty acids (C6–C12) in the mitochondrial ...accumulating medium-chain fatty acids such as C8 (octanoate) and other medium-chain acyl-CoAs may have toxic ...
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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 acyl- CoA ...
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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, 1 with ...
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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 with C6-CoA has been ...
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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: acyl-CoA synthetase ...
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