Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD), a rare inherited genetic condition, is caused by mutations in the ACADVL gene. It is associated with a disorder in fatty acid metabolism ...
The recent incorporation of medium chain acyl-CoA dehydrogenase deficiency (MCADD) in newborn screening programs has facilitated the expansion of epidemiologic knowledge of this treatable disorder.
long chain 3-chydroxyacyl-CoA dehydrogenase deficiency; MSD, Maple syrup disease; MCADD, medium chain acyl-CoA dehydrogenase deficiency; MMA, methylmalonic acidemia; MADD, multiple acyl-CoA ...
CSPD, carbamyl phosphate synthetase deficiency; HHH, hyperornithinemia hyperammonemia homocitrullinuria syndrome; IVA, isovalemic acidemia; LCHADD, long chain 3-chydroxy-acyl-CoA dehydrogenase ...