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infantile glycine encephalopathy - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

infantile glycine encephalopathy

MONDO:0017354

Also known as:glycine encephalopathy of infancyinfantile NKHinfantile non-ketotic hyperglycinemia

Overview

Infantile glycine encephalopathy is a mild to severe form of glycine encephalopathy (GE), characterized by early hypotonia, developmental delay and seizures.

ResearchLimited published research (9 articles)

Diagnosis

Biomarker and diagnostic research for infantile glycine encephalopathy has been reported in the published literature.

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 infantile glycine encephalopathy.

9 publications have been identified in PubMed for infantile glycine encephalopathy. Research spans Case Report / Case Series (44%), Basic Science / Preclinical (22%), and Diagnostic / Biomarker (11%).

Recent Publications

Yuan F (2025). [PMID: 40225406](https://pubmed.ncbi.nlm.nih.gov/40225406/). *Mol Genet Metab Rep*. [Basic Science / Preclinical]
German HM (2025). [PMID: 41001736](https://pubmed.ncbi.nlm.nih.gov/41001736/). *Genet Med*. [Basic Science / Preclinical]
Pang P (2025). [PMID: 41142854](https://pubmed.ncbi.nlm.nih.gov/41142854/). *Mol Genet Metab Rep*. [Case Report / Case Series]
Itonaga T (2025). [PMID: 41492583](https://pubmed.ncbi.nlm.nih.gov/41492583/). *Cureus*. [Case Report / Case Series]
Sen K (2025). [PMID: 39536593](https://pubmed.ncbi.nlm.nih.gov/39536593/). *Pediatr Neurol*. [Case Report / Case Series]

Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 11:13 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:289860

GARD

Genetic and Rare Diseases Info Center

GARD:17333

Questions for Your Care Team

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infantile glycine encephalopathy

Overview

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team