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maple syrup urine disease, mild variant - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

maple syrup urine disease, mild variant

MONDO:0014057

Also known as:MSUDMV

Overview

GeneticsAutosomal recessive · PPM1K (chr 4)

OnsetNEONATAL

ResearchLimited published research (4 articles)

Clinical Presentation

Features include always present findings: Hyperisoleucinemia and Hyperleucinemia.

Age of onset: newborn period.

Explore clinical features

Genetic Landscape

PPM1K function has not been fully characterized.

Maple syrup urine disease, mild variant has been associated with mutations in the PPM1K gene on chromosome 4.

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

Genetic testing for PPM1K is available. Testing is considered supportive for diagnosis.

Biomarker and diagnostic research for maple syrup urine disease, mild variant has been reported in the published literature.

Prognosis

Phenotype severity distribution: 2 always present features.

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 maple syrup urine disease, mild variant.

4 publications have been identified in PubMed for maple syrup urine disease, mild variant. Research spans Diagnostic / Biomarker (25%), Case Report / Case Series (25%), and Epidemiology / Natural History (25%).

Recent Publications

Hammann N (2025). [PMID: 40390331](https://pubmed.ncbi.nlm.nih.gov/40390331/). *Journal of inherited metabolic disease*. [Epidemiology / Natural History]
Kılıç M (2025). [PMID: 40047138](https://pubmed.ncbi.nlm.nih.gov/40047138/). *American journal of medical genetics. Part A*. [Gene Therapy / Novel Therapeutics]
Tejedor JR (2025). [PMID: 39659154](https://pubmed.ncbi.nlm.nih.gov/39659154/). *J Inherit Metab Dis*. [Diagnostic / Biomarker]
Mondésert E (2025). [PMID: 40248769](https://pubmed.ncbi.nlm.nih.gov/40248769/). *Mol Genet Metab Rep*. [Case Report / Case Series]

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 11:55 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:615135

GARD

Genetic and Rare Diseases Info Center

GARD:18388

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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maple syrup urine disease, mild variant

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team