thirty-five patients with aminoacidopathy were identified , all but two of whom were the offspring of first-degree consanguineous marriages : nine cases of phenylketonuria , one benign hyperphenylalaninaemia , seven non-ketotic hyperglycinaemia , five tyrosinaemia , five homocystinuria , four citrullinaemia , two cystinuria , one hyperprolinaemia , and one maple syrup urine disease .
C0002514
aminoacidopathy
C0024776
maple syrup urine disease