congenital disorders of amino acid metabolism congenital disorders of amino acid metabolism inborn errors of amino acid metabolism are metabolic disorders which impair the synthesis and degradation of amino acids. congenital disorders of amino acid metabolismthe general structure of an α-amino acid, with the amino group on the left and the carboxyl group on the right.specialtyendocrinology types alkaptonuria aspartylglucosaminuria branched-chain keto acid dehydrogenase kinase deficiency methylmalonic acidemia maple syrup urine disease homocystinuria tyrosinemia trimethylaminuria hartnup disease biotinidase deficiency ornithine carbamoyltransferase deficiency carbamoyl-phosphate synthase i deficiency disease citrullinemia hyperargininemia hyperhomocysteinemia hypermethioninemia hyperlysinemias nonketotic hyperglycinemia propionic acidemia hyperprolinemia amino acid transport disorders cystinuria dicarboxylic aminoaciduria hartnup disease amino acid storage disorders glutaric acidemia type 2