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galactosemia 4 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

galactosemia 4

MONDO:0030105

Also known as:GALAC4GALACTOSEMIA IVGalactose Mutarotase Deficiency

Overview

GeneticsAutosomal recessive · GALM (chr 2)

OnsetNEONATAL

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 always present findings: Hypergalactosemia; and sometimes findings: Cataract and Prolonged neonatal jaundice. 5 total HPO annotations.

Organ System	Phenotype Count	Example Features
Digestive system	2	Enlarged liver (hepatomegaly), Prolonged neonatal jaundice

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

GALM encodes galactose mutarotase (342 aa). Mutarotase that catalyzes the interconversion of beta-D-galactose and alpha-D-galactose during galactose metabolism. Highest expression in Adrenal Gland (120.1 TPM) and Kidney Cortex (30.3 TPM).

Galactosemia 4 is strongly associated with mutations in the GALM gene on chromosome 2.

The GALM protein participates in Defective GALM causes GALAC4, GALM converts beta-D-GAL to alpha-D-GAL, and Defective GALM doesn't convert beta-D-GAL to alpha-D-GAL pathways.

GALM is classified as a druggable target (Enzyme category) with score 0.0.

Diagnosis

Genetic testing for GALM is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for galactosemia 4 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 1 always present feature.

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 galactosemia 4.

39 publications have been identified in PubMed for galactosemia 4. Research spans Diagnostic / Biomarker (31%), Review / Meta-Analysis (18%), and Basic Science / Preclinical (15%).

Research Type	Count	% of Total
Testing and diagnosis research	12	31%

Data assembled from 7 of 12 sources · Last updated Sep 19, 2026, 6:53 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618881

Orphanet

European rare disease database

Orphanet:570422

GARD

Genetic and Rare Diseases Info Center

GARD:18005

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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Kisho

galactosemia 4

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

Latest News & Developments

Global birth prevalence of galactosemia and the role of neonatal screening: A scoping review.

Mother channels fear into advocacy after son’s rare disease diagnosis

galactosemia 4

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

Latest News & Developments

Global birth prevalence of galactosemia and the role of neonatal screening: A scoping review.

Mother channels fear into advocacy after son’s rare disease diagnosis