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encephalopathy due to beta-mercaptolactate-cysteine disulfiduria - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

encephalopathy due to beta-mercaptolactate-cysteine disulfiduria

MONDO:0009585

Also known as:3-mercaptopyruvate sulfurtransferase deficiencyAmpola syndromeBeta-mercaptolactate cysteine disulfiduria

Overview

GeneticsAutosomal recessive

ResearchLimited published research (7 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include: Bilateral tonic-clonic seizure, Reduced movement (hypokinesia), Aminoaciduria, and High, narrow palate and 3 more.

Organ System	Phenotype Count	Example Features
Brain and nerves	4	Bilateral tonic-clonic seizure, Reduced movement (hypokinesia), Depressed nasal bridge

Prognosis

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for encephalopathy due to beta-mercaptolactate-cysteine disulfiduria.

7 publications have been identified in PubMed for encephalopathy due to beta-mercaptolactate-cysteine disulfiduria. Research spans Basic Science / Preclinical (100%).

Recent Publications

Ganguly A (2026). [PMID: 41902666](https://pubmed.ncbi.nlm.nih.gov/41902666/). *Am J Physiol Lung Cell Mol Physiol*. [Basic Science / Preclinical]
Yang B (2025). [PMID: 40653055](https://pubmed.ncbi.nlm.nih.gov/40653055/). *Neurotoxicology*. [Basic Science / Preclinical]
Bronowicka-Adamska P (2025). [PMID: 39870157](https://pubmed.ncbi.nlm.nih.gov/39870157/). *Biochimie*. [Basic Science / Preclinical]
Zhu L (2025). [PMID: 40041885](https://pubmed.ncbi.nlm.nih.gov/40041885/). *Acta Pharm Sin B*. [Basic Science / Preclinical]
Ganguly A (2025). [PMID: 41509323](https://pubmed.ncbi.nlm.nih.gov/41509323/). *bioRxiv*. [Basic Science / Preclinical]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 2:15 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:249650

Orphanet

European rare disease database

Orphanet:1035

GARD

Genetic and Rare Diseases Info Center

GARD:654

Questions for Your Care Team

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encephalopathy due to beta-mercaptolactate-cysteine disulfiduria

Overview

Clinical Presentation

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

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