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Homocystinuria

MONDO:0004737

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.

Also known as: homocystinuria, homocystinuria (disease), CBS deficiency, cystathionine beta synthase deficiency, cystathionine synthase deficiency

11 clinical trials for this condition and its sub-types.

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Sub-types

Classic homocystinuria (3) Hyperhomocysteinemia (3) Methylmalonic aciduria and homocystinuria type cblC (3) Methylcobalamin deficiency type cblE (2) Methylcobalamin deficiency type cblG (2) Methylmalonic aciduria and homocystinuria type cblD (2) Homocystinuria due to methylene tetrahydrofolate reductase deficiency (1) Methylmalonic acidemia with homocystinuria, type cblJ (1) Methylmalonic aciduria and homocystinuria (1) Methylmalonic aciduria and homocystinuria type cblF (1) Homocystinuria-megaloblastic anemia cblD type (0) Homocystinuria without methylmalonic aciduria (0) Methylcobalamin deficiency type cblDv1 (0) Methylmalonic acidemia with homocystinuria, type cblX (0) Methylmalonic aciduria and homocystinuria, cb1L type (0)

Broader categories

Disease (680) Metabolic disease (233) Hereditary disease (176) Inborn errors of metabolism (45) Human disease (14) Inborn disorder of amino acid metabolism (4) Disease of genetic or genomic mechanism (2) Mineral metabolism disease (2) Amino acid metabolism disease (1) Disease by developmental or physiological process (0)
Trials to join now! 5 Not yet recruiting 1 Not yet finished but already full! 3 Completed 2
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