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

inborn glycerol kinase deficiency - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

inborn glycerol kinase deficiency

MONDO:0010613

Also known as:glycerol kinase deficiencyglycerol kinase deficiency, X-linked recessiveinborn error of glycerol kinase activity

Overview

An acquired metabolic disease that has its basis in the disruption of glycerol kinase activity.

GeneticsX-linked · GK (chr X)

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: Nausea, Metabolic acidosis, Myalgia, and Vomiting and others; and very common findings: Global developmental delay. 34 total HPO annotations.

Organ System	Phenotype Count	Example Features
Digestive system	4	Nausea, Vomiting, Episodic vomiting

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.

GK encodes glycerol kinase (559 aa). Kinase that plays a key role in glycerol metabolism, catalyzing its phosphorylation to produce sn-glycerol 3-phosphate. Highest expression in Whole Blood (26.0 TPM) and Lung (14.9 TPM).

Inborn glycerol kinase deficiency is caused by mutations in the GK gene on chromosome X.

The GK protein participates in STRN(1-137)-p-7Y-ALK(1058-1620) fusion, STRN(1-137)-ALK(1058-1620) fusion, and p-6Y-FGFR3 K650T pathways.

GK is classified as a druggable target (Enzyme and Kinase categories) with score 6.5.

Diagnosis

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

Prognosis

Phenotype severity distribution: 9 always present features, 1 very common feature, 1 common feature.

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 inborn glycerol kinase deficiency.

18 publications have been identified in PubMed for inborn glycerol kinase deficiency. Research spans Case Report / Case Series (61%), Other (17%), and Review / Meta-Analysis (11%).

Research Type	Count	% of Total
Patient case studies	11	61%

Data assembled from 7 of 12 sources · Last updated Sep 19, 2026, 11:57 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:307030

Orphanet

European rare disease database

Orphanet:308993

GARD

Genetic and Rare Diseases Info Center

GARD:21311

Questions for Your Care Team

→Should female family members consider carrier screening for GK?
→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

Kisho

inborn glycerol kinase deficiency

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

inborn glycerol kinase deficiency

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