Inborn disorder of methionine cycle and sulfur amino acid metabolism
MONDO:0019222An inherited metabolic disease that is has its basis in the disruption of sulfur amino acid metabolic process.
Also known as: cytosolic methyl group transfer or sulfur amino acid metabolism disorder, cytosolic methyl group transfer or sulphur amino acid metabolism disorder, inborn error of sulfur amino acid metabolic process, inborn error of sulphur amino acid metabolic process, inborn sulfur amino acid metabolic process disorder, inborn sulphur amino acid metabolic process disorder, rare inborn error of sulfur amino acid metabolic process, rare inborn error of sulphur amino acid metabolic process
12 clinical trials for this condition and its sub-types, 0 tagged with Inborn disorder of methionine cycle and sulfur amino acid metabolism itself.
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Sub-types of Inborn disorder of methionine cycle and sulfur amino acid metabolism
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Homocystinuria 7 trials · 11 incl. sub-types
5 sub-types
- Classic homocystinuria 4 trials
- Hyperhomocysteinemia 3 trials
- Methylmalonic aciduria and homocystinuria 1 trial · 3 incl. sub-types Sub-types →
- Homocystinuria without methylmalonic aciduria 0 trials · 2 incl. sub-types Sub-types →
- Homocystinuria due to methylene tetrahydrofolate reductase deficiency 1 trial
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Encephalopathy due to sulfite oxidase deficiency 0 trials · 1 incl. sub-types
2 sub-types
- Sulfite oxidase deficiency due to molybdenum cofactor deficiency 0 trials · 1 incl. sub-types Sub-types →
- Isolated sulfite oxidase deficiency 0 trials
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Cystathioninuria 0 trials
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Disorder of methionine catabolism 0 trials
3 sub-types
Most studied deeper sub-types
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New drug pegtibatinase tested for rare metabolic disorder over two years
Disease control By invitation onlyThis study tests the long-term safety and effectiveness of pegtibatinase in people with classical homocystinuria (HCU), a rare genetic disorder that prevents the body from breaking down certain amino acids. About 100 participants who completed earlier studies will receive the dru…
Phase 3 • Sponsor: Travere Therapeutics, Inc. • Aim: Disease control
Last updated Jun 27, 2026 12:38 UTC
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Newborn screening study aims to catch rare diseases at birth
Diagnosis OngoingThis study offers voluntary screening for newborns in North Carolina to detect a wide range of rare health conditions early. Using a small blood sample already collected at birth, the program tests for dozens of disorders, including spinal muscular atrophy, cystic fibrosis, and m…
Sponsor: RTI International • Aim: Diagnosis
Last updated Jul 03, 2026 00:00 UTC
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Could a simple creatine pill replace strict diets for a rare metabolic disorder?
Knowledge-focused OngoingThis early study tests whether taking creatine supplements for a week can lower the production of homocysteine, a toxic amino acid, in healthy adult men. Homocystinuria is a rare inherited disorder where the body cannot break down homocysteine, often requiring a difficult low-pro…
Sponsor: University of British Columbia • Aim: Knowledge-focused
Last updated Jun 27, 2026 09:04 UTC