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

Rare Disease

isolated glycerol kinase deficiency

MONDO:0018459

Also known as:hyperglycerolemiaisolated inborn glycerol kinase deficiencynonsyndromic glycerol kinase deficiency

Overview

Isolated glycerol kinase deficiency (GKD) is a very rare X-linked disorder of glycerol metabolism characterized biochemically by elevated plasma and urine glycerol levels, and clinically by variable neurometabolic manifestations, depending on the age of onset, and varying from a life-threatening childhood metabolic crisis to an asymptomatic adult form (infantile GKD, juvenile GKD, and adult GKD ).

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 isolated glycerol kinase deficiency.

9 publications have been identified in PubMed for isolated glycerol kinase deficiency. Research spans Case Report / Case Series (56%), Review / Meta-Analysis (22%), and Basic Science / Preclinical (11%).

Recent Publications

Kara C (2025). [PMID: 40741920](https://pubmed.ncbi.nlm.nih.gov/40741920/). *J Pediatr Endocrinol Metab*. [Case Report / Case Series]
Hansel B (2025). [PMID: 41047305](https://pubmed.ncbi.nlm.nih.gov/41047305/). *J Clin Lipidol*. [Epidemiology / Natural History]
Larouche M (2025). [PMID: 40642335](https://pubmed.ncbi.nlm.nih.gov/40642335/). *JCEM Case Rep*. [Case Report / Case Series]
Niraula A (2025). [PMID: 40418654](https://pubmed.ncbi.nlm.nih.gov/40418654/). *Endocrinology*. [Basic Science / Preclinical]
Sriphrapradang C (2025). [PMID: 39586762](https://pubmed.ncbi.nlm.nih.gov/39586762/). *J Clin Lipidol*. [Case Report / Case Series]

Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 3:08 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:408

GARD

Genetic and Rare Diseases Info Center

GARD:2807

Questions for Your Care Team

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isolated glycerol kinase deficiency

Overview

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team