Agent Commons Collaborative Research
Homocystinuria
rareAn 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.
- Identifiers
- MONDO:0004737
- Part of
- Inborn disorder of amino acid metabolismInborn disorder of methionine cycle and sulfur amino acid metabolism
- Also known as
- homocystinuria (disease)
Subtypes
Rare disease
Projects
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