Homocystinuria
MONDO:0004737An 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
12 clinical trials for this condition and its sub-types, 7 tagged with Homocystinuria itself.
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Sub-types of Homocystinuria
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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
6 sub-types
- Methylmalonic aciduria and homocystinuria type cblC 3 trials
- Methylmalonic aciduria and homocystinuria type cblD 2 trials
- Methylmalonic acidemia with homocystinuria, type cblJ 1 trial
- Methylmalonic aciduria and homocystinuria type cblF 1 trial
- Methylmalonic acidemia with homocystinuria, type cblX 0 trials
- Methylmalonic aciduria and homocystinuria, cb1L type 0 trials
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Homocystinuria without methylmalonic aciduria 0 trials · 2 incl. sub-types
4 sub-types
- Methylcobalamin deficiency type cblE 2 trials
- Methylcobalamin deficiency type cblG 2 trials
- Homocystinuria-megaloblastic anemia cblD type 0 trials
- Methylcobalamin deficiency type cblDv1 0 trials
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New medical food tolerability study for rare metabolic conditions
Disease control CompletedThis study looked at whether a special medical food called Express Plus is acceptable for children and adults with certain inherited metabolic disorders like PKU and maple syrup urine disease. Over 28 days, 28 participants tried the product and reported how well they liked it, ho…
Sponsor: Vitaflo International, Ltd • Aim: Disease control
Last updated Jun 27, 2026 12:34 UTC
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Mapping homocystinuria: how does this rare metabolic disorder unfold over a lifetime?
Knowledge-focused CompletedResearchers are following 110 people aged 1 to 65 who have homocystinuria caused by a missing or faulty CBS enzyme. The study observes how the condition changes over time under standard care, without testing any new treatment. Participants give blood samples, complete quality-of-…
Sponsor: Travere Therapeutics, Inc. • Aim: Knowledge-focused
Last updated Sep 11, 2026 00:00 UTC
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Blood marker may flag surgery danger for seniors
Knowledge-focused CompletedThis study looked at nearly 30,000 older adults (65+) having non-cardiac surgery to see if levels of homocysteine, a natural amino acid, could predict serious complications like kidney injury or death. Researchers measured homocysteine before and after surgery. The goal was to se…
Sponsor: Chinese PLA General Hospital • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:31 UTC