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

Rare Disease

glycerol kinase deficiency, infantile form

MONDO:0017294

Overview

Infantile glycerol kinase deficiency (GKD) is a severe form of GKD characterized clinically by poor feeding, failure to thrive, salt-wasting dehydration, vomiting, Addisonian pigmentation, hypotonia, and disorders of consciousness. Some patients have complex GKD associated with adrenal hypoplasia congenita and/or Duchenne muscular dystrophy (DMD) with manifestations including intellectual deficit, dysmorphic facial features, abnormal external genitalia, strabismus, seizures, and progressive lethargy.

ResearchLimited published research (5 articles)

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 glycerol kinase deficiency, infantile form.

5 publications have been identified in PubMed for glycerol kinase deficiency, infantile form. Research spans Review / Meta-Analysis (60%) and Case Report / Case Series (40%).

Recent Publications

Gau M (2026). [PMID: 41285479](https://pubmed.ncbi.nlm.nih.gov/41285479/). *Endocr J*. [Review / Meta-Analysis]
Fontaine F (2026). [PMID: 41750371](https://pubmed.ncbi.nlm.nih.gov/41750371/). *Biomolecules*. [Review / Meta-Analysis]
Madiraju SRM (2026). [PMID: 40927981](https://pubmed.ncbi.nlm.nih.gov/40927981/). *Endocr Rev*. [Review / Meta-Analysis]
Bregvadze K (2025). [PMID: 40171039](https://pubmed.ncbi.nlm.nih.gov/40171039/). *Clin Med Insights Endocrinol Diabetes*. [Case Report / Case Series]
Seferi S (2024). [PMID: 39473663](https://pubmed.ncbi.nlm.nih.gov/39473663/). *Cureus*. [Case Report / Case Series]

Data assembled from 3 of 12 sources · Last updated Sep 18, 2026, 11:10 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:284408

Questions for Your Care Team

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glycerol kinase deficiency, infantile form

Overview

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

Related Diseases

Questions for Your Care Team

Questions for Your Care Team