disease has basis in disruption of disease caused by disruption of homocysteine metabolic process inborn disorder of amino acid metabolism homocystinuria https://www.malacards.org/card/homocystinuria cystathionine synthase deficiency homocystinuria (disease) NCIT:C84765 UMLS:C0019880 CBS deficiency cystathionine beta synthase deficiency homocystinuria (disease) homocystinuria MESH:D006712 MEDGEN:42485 MONDO:0004737 ICD10CM:E72.11 GARD:0010770 NANDO:2200474 HP:0002156 SCTID:11282001 NANDO:1201038 DOID:9263 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. inborn disorder of methionine cycle and sulfur amino acid metabolism