ORPHA:1035
Beta-mercaptolactate cysteine disulfiduria
Also known as: 3-mercaptopyruvate sulfurtransferase deficiency · Ampola syndrome · MCDU
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
7
17.7th percentile
Trials
0
Interventional, condition-specific
Researchers
38
Distinct authors in sample
Gene link
MPST
No Known Disease Relationship
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
An extremely rare disorder of methionine cycle and sulfur amino acid metabolism characterized by increased urine excretion of beta-mercaptolactate-cysteine disulfide (due to deficiency of mercaptopyruvate sulfurtransferase activity in erythrocytes), leading to a positive cyanide nitroprusside test. Association with , lens dislocation, and behavioral abnormalities has been reported, however the causal link remains to be established. There have been no further descriptions in the literature since 1981.
How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0009585
- MeSH:C563085
- OMIM:249650
- UMLS:C0796055
Research stages
Trial readiness signals
Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”
2/6 stages with a signal
No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPartial
No Known Disease Relationship — MPST
- LiteraturePresent
7 matched papers (4 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialNot found
No matched interventional trial under our ClinicalTrials.gov rules
Biology
Genes and phenotypes
Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.
Do we know what causes it?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
Phenotypes (Monarch / HPO)
Not enriched in this build — Monarch phenotype joins were not run for this record.
Animal models (Monarch / Alliance)
Not enriched in this build.
Literature
Is anyone studying this?
7
7 papers have ever been indexed under this name. For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
7 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).
4 in the last 10 years · medium confidence · 17.7th percentile (publications denominator)
Phrase hits: 7 · MeSH hits: 0
Who's working on it?
38
Distinct author names in 7 sampled papers — named people below.
Who's working on it?
No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.
- 01Nagahara N2 papers · 2020
Isotope Research Center, Nippon Medical School, Tokyo, Japan.
Papers in Europe PMC - 02Ahmad A1 paper · 2019
Department of Anesthesiology, The University of Texas Medical Branch, Galveston.
Papers in Europe PMC - 03Baerlocher K1 paper · 1973Papers in Europe PMC
- 04Bertrand J1 paper · 2020
Department of Orthopaedic Surgery, Otto-von-Guericke University, Magdeburg, Germany.
Papers in Europe PMC - 05Busso N1 paper · 2020
Service of Rheumatology, Department of Musculoskeletal Medicine, Centre Hospitalier Universitaire Vaudois and University of Lausanne, Lausanne, Switzerland. Nathalie.Busso@chuv.ch.
Papers in Europe PMC - 06Calzia E1 paper · 2019
Institute of Anesthesiological Pathophysiology and Process Engineering, University Hospital, Ulm, Germany.
Papers in Europe PMC - 07Chatzianastasiou A1 paper · 2020
First Department of Critical Care and Pulmonary Services, Faculty of Medicine, National and Kapodistrian University of Athens, Athens, Greece.
Papers in Europe PMC - 08Cirino G1 paper · 2020
Department of Pharmacy, University of Naples Federico II, Naples, Italy.
Papers in Europe PMC - 09Druzhyna N1 paper · 2019
Department of Anesthesiology, The University of Texas Medical Branch, Galveston.
Papers in Europe PMC - 10Ehirchiou D1 paper · 2020
Service of Rheumatology, Department of Musculoskeletal Medicine, Centre Hospitalier Universitaire Vaudois and University of Lausanne, Lausanne, Switzerland.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
0
interventional trials for this specific condition
No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).
Data as of 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
medium confidence · 36.5th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
India — NPRD
Last verified 2026-07-26This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.
Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.
How we counted this
Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.
"Beta-mercaptolactate cysteine disulfiduria" OR "3-mercaptopyruvate sulfurtransferase deficiency" OR "Ampola syndrome"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Beta-mercaptolactate cysteine disulfiduria" OR "3-mercaptopyruvate sulfurtransferase deficiency" OR "Ampola syndrome" OR "MPST"
Recall-expansion terms: MPST
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: MCDU
Confidence reasoning
- Preferred label is multi-word and distinctive
- 1 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-26T16:15:00.401Z