Tags: Disease.
2-Methylbutyryl-CoA dehydrogenase deficiency also called 2-Methylbutyryl glycinuria or short/branched-chain acyl-CoA dehydrogenase deficiency (SBCADD) 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.
