<unk> , is an autosomal recessive metabolic disorder. It causes the body to be unable to process the amino acid isoleucine properly. Initial case reports identified individuals with developmental delay and epilepsy, however most cases identified through newborn screening have been asymptomatic.
2-Methylbutyryl-CoA dehydrogenase deficiency
3-Methylcrotonyl-CoA carboxylase deficiency
Malonyl-CoA decarboxylase deficiency
3-Hydroxyisobutyryl-CoA deacylase deficiency
2,4 Dienoyl-CoA reductase deficiency
Pyruvate kinase deficiency
Succinyl-CoA:3-oxoacid CoA transferase deficiency
Glutaminase deficiency