Homocystinuria
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. [ ]
Term info
Homocystinuria
- Homocystinuria
NCIT_C90259, NCIT_C99147
NICHD
http://purl.obolibrary.org/obo/NCIT_C97090
Homocystinuria
Homocystinuria
Disease or Syndrome
C0019880
C84765