Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

metachromatic leukodystrophy, late infantile form - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

metachromatic leukodystrophy, late infantile form

MONDO:0017729

Also known as:MLD, late infantile formarylsulfatase A deficiency, late infantile form

Overview

ResearchLimited published research (9 articles)

Prognosis

Estimated prevalence: Unknown (Unknown prevalence).

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 metachromatic leukodystrophy, late infantile form.

9 publications have been identified in PubMed for metachromatic leukodystrophy, late infantile form. Research spans Case Report / Case Series (44%), Epidemiology / Natural History (33%), and Other (11%).

Recent Publications

Hassan AO (2026). [PMID: 41777990](https://pubmed.ncbi.nlm.nih.gov/41777990/). *Cureus*. [Case Report / Case Series]
Chapleau A (2025). [PMID: 41143125](https://pubmed.ncbi.nlm.nih.gov/41143125/). *Neurology. Genetics*. [Epidemiology / Natural History]
Gavazzi F (2025). [PMID: 39951964](https://pubmed.ncbi.nlm.nih.gov/39951964/). *Molecular genetics and metabolism*. [Epidemiology / Natural History]
Weinhofer I (2025). [PMID: 40325881](https://pubmed.ncbi.nlm.nih.gov/40325881/). *Journal of inherited metabolic disease*. [Review / Meta-Analysis]
Kasapkara ÇS (2025). [PMID: 40176833](https://pubmed.ncbi.nlm.nih.gov/40176833/). *Molecular syndromology*. [Case Report / Case Series]

Data assembled from 3 of 12 sources · Last updated Sep 19, 2026, 11:46 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:309256

GARD

Genetic and Rare Diseases Info Center

GARD:21328

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

metachromatic leukodystrophy, late infantile form

Overview

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team