disease caused by disruption of disease has basis in disruption of homocysteine metabolic process inherited amino acid metabolic disorder homocystinuria (disease) An autosomal recessive inherited metabolic disorder caused by mutations in the CBS, MTHFR, MTR, and MTRR genes. It is characterized by abnormalities in the methionine metabolism and is associated with deficiency of cystathionine synthase. It results in the accumulation of homocysteine in the serum. It may affect the cardiovascular, musculoskeletal and the central nervous systems. CBS deficiency DOID:9263 GARD:0010770 HP:0002156 ICD10:E72.11 MONDO:0004737 NCIT:C84765 SCTID:11282001 UMLS:C0019880 cystathionine beta synthase deficiency cystathionine synthase deficiency homocystinuria inborn disorder of methionine cycle and sulfur amino acid metabolism