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Up to: Inborn disorder of amino acid metabolism · Inborn disorder of methionine cycle and sulfur amino acid metabolism
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.
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Classic homocystinuria 4 trials
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Hyperhomocysteinemia 3 trials
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Methylmalonic aciduria and homocystinuria 1 trial · 3 incl. sub-types Sub-types →
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Homocystinuria without methylmalonic aciduria 0 trials · 2 incl. sub-types Sub-types →