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galactokinase deficiency - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

galactokinase deficiency

MONDO:0009255

Also known as:GALK deficiencyGALK-Dgalactokinase deficiency galactosemia

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Overview

Galactokinase deficiency is a rare mild form of galactosemia characterized by early onset of cataract and an absence of the usual signs of classic galactosemia, i.e. feeding difficulties, poor weight gain and growth, lethargy, and jaundice.

GeneticsAutosomal recessive · GALK1 (chr 17)

Clinical Trials1 registered

ResearchLimited published research (6 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 always present findings: Reduced erythrocyte galactokinase activity; and sometimes findings: Increased intracranial pressure. 6 total HPO annotations.

Organ System	Phenotype Count	Example Features
Eyes	1	Cataract
Digestive system

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.

GALK1 encodes galactokinase 1 (392 aa). Catalyzes the transfer of a phosphate from ATP to alpha-D-galactose and participates in the first committed step in the catabolism of galactose Highest expression in Liver (40.1 TPM) and Nerve Tibial (31.2 TPM).

Galactokinase deficiency is caused by mutations in the GALK1 gene on chromosome 17.

The GALK1 protein participates in GALM converts beta-D-GAL to alpha-D-GAL, Defective GALK1 causes GALCT2, and Defective GALM causes GALAC4 pathways.

GALK1 is classified as a druggable target (Druggable Genome, Enzyme, and Kinase categories) with score 1.1.

Diagnosis

Genetic testing for GALK1 is available. Testing is considered confirmatory for diagnosis.

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.

1 clinical trial registered. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

6 publications have been identified in PubMed for galactokinase deficiency. Research spans Review / Meta-Analysis (33%), Epidemiology / Natural History (33%), and Other (17%).

Recent Publications

Ramani PK (2026). [PMID: 32809518](https://pubmed.ncbi.nlm.nih.gov/32809518/). *Unknown Journal*. [Other]
Rubio-Gozalbo ME (2025). [PMID: 39953772](https://pubmed.ncbi.nlm.nih.gov/39953772/). *J Inherit Metab Dis*. [Review / Meta-Analysis]
Garrett OS (2025). [PMID: 39143820](https://pubmed.ncbi.nlm.nih.gov/39143820/). *J Inherit Metab Dis*. [Epidemiology / Natural History]
Wada Y (2025). [PMID: 41398038](https://pubmed.ncbi.nlm.nih.gov/41398038/). *J Hum Genet*. [Review / Meta-Analysis]
Mangini L (2024). [PMID: 38974607](https://pubmed.ncbi.nlm.nih.gov/38974607/). *JIMD Rep*. [Basic Science / Preclinical]

Data assembled from 8 of 12 sources · Last updated Sep 18, 2026, 4:04 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:230200

Orphanet

European rare disease database

Orphanet:79237

GARD

Genetic and Rare Diseases Info Center

GARD:2422

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are any of the 1 active clinical trial a good fit for my situation?
→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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galactokinase deficiency

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

Questions for Your Care Team

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