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 outcomes depends ...
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Characterization of two ETFDH mutations in a novel case of riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency
... Mutations of ETFDH cause the onset of Multiple acyl-CoA dehydrogenase deficiency (MADD). MADD, also known as Glutaric aciduria type II (MIM 231680), is a rare autosomal recessive inherited disorder ...
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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 sufficient ...
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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 northern ...
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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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Short-Chain Acyl-CoA Dehydrogenase Deficiency: Studies in a Large Family Adding to the Complexity of the Disorder
... chain acyl-CoA dehydrogenase in lymphocytes or fibroblasts was measured using a high-performance liquid chromatography method. Cell lysates were incubated at pH 8 with butyryl-CoA and ...
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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 ...
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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)
... 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 of ...
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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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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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Acyl-CoA dehydrogenase long chain expression is associated with esophageal squamous cell carcinoma progression and poor prognosis
... Notes: representative images of acaDl expression in normal esophagus tissues and escc sections of various clinical stages from ihc analyses (A). The average MOD of acaDl staining was analyzed between relative normal ...
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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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Acute-onset multiple acyl-CoA dehydrogenase deficiency mimicking Guillain-Barré syndrome: two cases report
... Multiple acyl-CoA dehydrogenase deficiency (MADD) showed great clinical heterogeneity and poses a challenge to ...flavoprotein dehydrogenase (ETFDH) gene were found in the two patients through ...
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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 to G ...
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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
... the acyl- CoA dehydrogenases, which leads to defects in electron transfer generated by dehydrogenation reactions and accumulation of multiple acyl-CoAs and metabolic sub- strates in tissues ...
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Prolonged exercise testing in two children with a mild Multiple Acyl-CoA-Dehydrogenase deficiency
... Urine samples were taken before and after (3 hours) the exercise test and analyzed for organic acid analysis. Blood samples were taken before and after exercise and analyzed for glucose, lactate, free fatty acids (FFA), ...
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Hypoglycemia, Hypotonia, and Cardiomyopathy: The Evolving Clinical Picture of Long-Chain Acyl-CoA Dehydrogenase Deficiency
... viral illness.7’2’ This is reminiscent of patients with carnitine palmityl transferase deficiency, an en- zyme defect in the transport of long-chain fatty acid esters of carnitine into m[r] ...
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Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency: Clinical Presentation and Follow-Up of 50 Patients
... medium-chain acyl-CoA dehydrogenase; VLCAD, very long- chain acyl-CoA dehydrogenase; CPT, carnitine palmitoyl-CoA transferase; HELLP, hemolysis, elevated liver enzymes, ...
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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
... We sequenced polymerase chain reaction (PCR)-amplified variant medium chain acyl-CoA dehydrogenase (MCAD) cDNAs in cultured fibroblasts from three MCAD-deficient patients. In all three patients, an A ...
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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
... medium-chain acyl-CoA dehydrogenase accounted for 50% of the activity towards the short-chain substrate, butyryl-CoA, under these conditions, but that antibody against that enzyme could be ...
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