homocystinuria
MONDO:0004737Mondo
Findings
No curated finding names homocystinuria yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0004737), read 2026-09-29. CC BY 4.0.
Where it sits
Other names
1 name
Resolves to: homocystinuria
- Also called
- homocystinuria (disease)