Sulfur metabolism disease
MONDO:0056803A disease that has its basis in the disruption of sulfur compound metabolic process.
Also known as: disorder of sulfur compound metabolic process, disorder of sulfur metabolic process, disorder of sulfur metabolism, disorder of sulphur compound metabolic process, disorder of sulphur metabolic process, disorder of sulphur metabolism, sulfur compound metabolic process disease, sulphur compound metabolic process disease
15 clinical trials for this condition and its sub-types, 0 tagged with Sulfur metabolism disease itself.
Follow this condition to get notified about new trialsWhere it sits in the disease tree
Browse by category →Sub-types of Sulfur metabolism disease
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Inborn disorder of methionine cycle and sulfur amino acid metabolism 0 trials · 11 incl. sub-types
6 sub-types
- Homocystinuria 7 trials · 11 incl. sub-types Sub-types →
- Encephalopathy due to sulfite oxidase deficiency 0 trials · 1 incl. sub-types Sub-types →
- Autosomal recessive extra-oral halitosis 0 trials
- Cystathioninuria 0 trials
- Disorder of methionine catabolism 0 trials Sub-types →
- Methionine adenosyltransferase deficiency 0 trials
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Biotin metabolic disease 0 trials · 3 incl. sub-types
2 sub-types
- Inborn error of biotin metabolism 0 trials · 3 incl. sub-types Sub-types →
- Nutritional biotin deficiency 0 trials
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Inherited glutathione metabolism disease 0 trials · 1 incl. sub-types
6 sub-types
- Inherited glutathione synthetase deficiency 1 trial Sub-types →
- 5-oxoprolinase deficiency 0 trials
- Gamma-glutamyl transpeptidase deficiency 0 trials
- Gamma-glutamylcysteine synthetase deficiency 0 trials
- Hemolytic anemia due to glutathione reductase deficiency 0 trials
- Spondylometaphyseal dysplasia, Sedaghatian type 0 trials
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Inherited lipoic acid biosynthesis defect 0 trials · 1 incl. sub-types
6 sub-types
- Pyruvate dehydrogenase E3 deficiency 1 trial
- Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities 0 trials
- Fatal multiple mitochondrial dysfunctions syndrome 0 trials Sub-types →
- Lipoic acid synthetase deficiency 0 trials
- Lipoyl transferase 1 deficiency 0 trials
- Spasticity-ataxia-gait anomalies syndrome 0 trials
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