(redirected from Very Long-Chain Acyl-CoA Dehydrogenase)
VLCADVery Long-Chain Acyl-CoA Dehydrogenase (inherited metabolic disease)
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(d) CIT, citrullinemia type I; ASA, argininosuccinic acidemia; TYR I, tyrosinemia type I; VLCAD, very long-chain acyl-CoA dehydrogenase deficiency; TFP, mitochondrial trifunctional protein deficiency; CUD, carnitine uptake defect; IVA, isovaleric acidemia; HMG, 3-hydroxy-3-methylglutaricaciduria; MCD, multiple carboxylase deficiency (also known as holocar-boxylase synthetase deficiency); MUT, methylmalonicacidemia by mutase deficiency; 3MCC, 3-methylcrotonyl-CoAcarboxylasedeficiency; CbIA,B, methylmalonicacidemia; PROP, propionicacidemia; BKT, [beta]-ketothiolase deficiency; Hb S/[beta]Th, Hb S/[beta]-thalassemia; ND, not discussed; NA, not available.
Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency (MIM 201475) was first described in 1993.
Kramer et al., "A novel tandem mass spectrometry method for rapid confirmation of medium- and very long-chain acyl-CoA dehydrogenase deficiency in newborns," PLoS ONE, vol.
Four disorders accounted for an estimated 50 or more cases (methylmalonic acidemia attributed to mutase deficiency, very long-chain acyl-CoA dehydrogenase deficiency, carnitine uptake defect, and biotinidase deficiency).
Very long-chain acyl-CoA dehydrogenase deficiency: identification of a new inborn error of mitochondrial fatty acid oxidation in fibroblasts.
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