acyl-coenzyme A dehydrogenase
The multiple acyl coenzyme A dehydrogenation disorders, glutaric aciduria type II and ethylmalonic adipic aciduria Mitochondrial fatty acid oxidation, acyl coenzyme A dehydrogenase, and electron transfer flavoprotein activities in fibroblasts
... multiple acyl-coenzyme A (CoA) dehydrogenation disorders (MAD) include severe (S) and mild (M) variants, glutaric aciduria type II (MAD:S) and ethylmalonic-adipic aciduria ...mitochondria, acyl-CoA ...
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Prolonged QTc Interval in Association With Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency
... common disorder of fatty acid oxida- tion, with an incidence of 1 in 15 000 to 1 in 20 000 births. MCAD de fi ciency is an autosomal recessive disorder char- acterized by a defect in mitochondrial fatty acid b -oxidation ...
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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
... short-chain acyl-coenzyme A (CoA) dehydrogenase activity was demonstrated in cultured fibroblasts from a 2-yr-old female whose early postnatal life was complicated by poor feeding, emesis, and ...
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Child Neurology: Medium-chain acyl-coenzyme A dehydrogenase deficiency
... second dehydrogenase reaction to produce NADH and ...second coenzyme A molecule, which attacks at the b-carbon to produce acetyl-CoA and a fatty acyl-CoA that is 2 carbons shorter and will undergo ...
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Catalytic defect of medium chain acyl coenzyme A dehydrogenase deficiency Lack of both cofactor responsiveness and biochemical heterogeneity in eight patients
... adenine dinucleotide (FAD) did not stimulate MCD MCADH activity in either the 3H-release or electron-transfer(ring) flavoprotein-linked dye-reduction assays. Mixing experiments revealed no MCADH inhibitor in MCD MS; IVDH ...
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Short chain acyl coenzyme A dehydrogenase (SCAD) deficiency Immunochemical demonstration of molecular heterogeneity due to variant SCAD with differing stability
... dehydrogenase (SCAD) deficiency each synthesize a normal-sized (41 kD) variant SCAD in an amount comparable to that of normal cells. In the current study, these same cell lines were reexamined with immunoblot ...
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Purification of human very long chain acyl coenzyme A dehydrogenase and characterization of its deficiency in seven patients
... measuring acyl- coenzyme A dehydrogenation activities, overall palmitic acid oxidation, and VLCAD protein synthesis using pulse-chase, further confirming the diagnosis of VLCAD ...
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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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Recurrent Myoglobinuria as a Presenting Manifestation of Very Long Chain Acyl Coenzyme A Dehydrogenase Deficiency
... Laboratory examinations revealed: creatine phosphokinase (CPK) 130 790 U (N 5 0 –154); lactate dehydrogenase 5513 U (N 5 240 –580); serum glutamic-oxaloacetic transaminase U 2485 (N 5 7–34); and CPK isoenzymes MM ...
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Short chain acyl coenzyme A dehydrogenase deficiency Clinical and biochemical studies in two patients
... Mitochondrial acyl-CoA dehydrogenase (ADH) activities with butyryl- and octanoyl-CoAs were 37 and 56% of control in neonate I, and 47 and 81% of control in neonate II, ...
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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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Clinical and genetical heterogeneity of late-onset multiple acyl-coenzyme A dehydrogenase deficiency
... “multiple acyl-CoA dehydrogenase deficiency”, “glutaric aciduria type 2”, “glutaric acidemia type 2”, “ETFDH”, “ETFA” and “ETFB” in order to obtain comprehensive information on the clinical course of MADD ...
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Molecular cloning and nucleotide sequence of complementary DNAs encoding human short chain acyl coenzyme A dehydrogenase and the study of the molecular basis of human short chain acyl coenzyme A dehydrogenase deficiency
... coenzyme A (CoA) dehydrogenase (SCAD) (EC 1.3.99.2) were cloned and sequenced. The cDNA inserts in these clones were 1,852 bases in length combined, and encoded the entire 412-amino acid precursor SCAD (mol ...
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Identification of two variant short chain acyl coenzyme A dehydrogenase alleles, each containing a different point mutation in a patient with short chain acyl coenzyme A dehydrogenase deficiency
... chain acyl-CoA dehydrogenase (SCAD) gene were identified in a SCAD-deficient patient (YH2065) using the polymerase chain reaction to amplify cDNA synthesized from total RNA from her ...
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Changes in peroxisome proliferator-activated receptor alpha target gene expression in peripheral blood mononuclear cells associated with non-alcoholic fatty liver disease
... A dehydrogenase 2; ACADVL: Acyl-coenzyme A dehydrogenase 2 long chain; ALP: Alkaline phosphatase; ALT: Alanine aminotransferase; AST: Aspartate aminotransferase; BMI: Body mass index; CN: ...
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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 long-chain ...
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PPARα protein expression was increased by four weeks of intermittent hypoxic training via AMPKα2-dependent manner in mouse skeletal muscle
... 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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Neonatal Screening for Very Long-Chain Acyl-CoA Dehydrogenase Deficiency: Enzymatic and Molecular Evaluation of Neonates With Elevated C14:1-Carnitine Levels
... long-chain acyl-coenzyme A dehydrogenase deficiency (VLCADD), have been implemented recently in a num- ber of European countries, as well as in Australia, and are currently required by law in 28 of ...
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Complementation analysis of fatty acid oxidation disorders
... chain acyl-coenzyme A (CoA) dehydrogenase deficiency (115%), medium chain acyl-CoA dehydrogenase deficiency (18%), long-chain acyl-CoA dehydrogenase deficiency (28%), ...
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Biosynthesis, regulation, and engineering of microbially produced branched biofuels
... aldehyde-alcohol dehydrogenase (encoded by adhE), a lactate dehydrogenase A (encoded by ldhA), a fumarate reductase (encoded by frdAB), a regulator of fumarate and nitrate reduction (encoded by fnr), and a ...
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