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.
MONDO:0004736
inborn disorder of amino acid metabolism
is_a
MONDO:0019222
inborn disorder of methionine cycle and sulfur amino acid metabolism
is_a
CBS deficiency
narrow
cystathionine beta synthase deficiency
narrow
cystathionine synthase deficiency
narrow
homocystinuria
exact
homocystinuria (disease)
exact
SPAC343.10 SPAC57A7.07c SPBC36.04 SPAC1783.01 SPAC56F8.10 SPCC576.03c SPBC12C2.03c