Evaluation of newborn screening for medium chain acyl-CoA
dehydrogenase deficiency in 275,000 babies.
Carnitine is an amino acid derivative whose primary roles in the human body are in transporting long-chain fatty acids into the mitochondria for use as a fuel and buffering excess acyl-CoA
accumulation within mitochondria.
Selective Inhibition of Acyl-CoA
Dehydrogenases by a Metabolite of Hypoglycin.
A total of 23 differentially expressed genes involved in fatty acid synthesis were identified in this study, including 7 long-chain acyl-CoA
synthetases (LACS), ACC1, 4 beta-ketoacyl-ACP synthases (KASs), FAB1, SSI2, FATB, FTM1, and MOD1.
First described in a neonate with hypotonia who subsequently developed a severe pyramidal disorder, EE was initially labeled as a branched-chain acyl-CoA
dehydrogenase defect (1).
Primary antibodies for anti-11 beta-hydroxysteroid dehydrogenase 1 (11[beta]-HSDH1), medium chain acyl-CoA
dehydrogenase (MCAD), and anti-glyceraldehyde 3-phosphate dehydrogenase (GAPDH) and secondary antibodies were purchased from Santa Cruz Biotechnology, Inc.
Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl-CoA
Synthetase and Acetyl-CoA Synthetase are enzymes present in the fatty acid metabolism, preserved in D.
Knudsen, "Evolution of the acyl-CoA
binding protein (ACBP)," Biochemical Journal, vol.
dehydrogenase deficiency (MCADD) is the most common metabolic defect of fatty acid oxidation.
TMS tests: Phenylketonuria, Homocystinura, Maple Syrup Urine Disease, Arginino Succinic Aciduria, Citrullinemia, Propionic Acidemia, Methyl Malonic Acidemia, Isovaleric Acidemia, Beta Ketothiolase deficiency, Glutaric Aciduria types 1 & 2, Medium Chain Acyl-CoA
Dehydrogenase deficiency, Very Long Chain Acyl CoA Dehydrogenase deficiency, HMG-CoA Lyase deficiency.