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

Rare Disease

atypical glycine encephalopathy

MONDO:0015010

Also known as:atypical NKAatypical non-ketotic hyperglycinemiaGLYCINE encephalopathy with normal serum GLYCINE

Overview

Atypical glycine encephalopathy is a rare form of glycine encephalopathy (GE) presenting disease onset or clinical manifestations that differ from neonatal or infantile GE.

GeneticsAutosomal recessive · SLC6A9 (chr 1)

ResearchLimited published research (8 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 common findings: Damage to the optic nerve (optic atrophy); and sometimes findings: Microcephaly. 33 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	7	Encephalopathy, Exaggerated startle response, Clonus

Genetic Landscape

SLC6A9 function has not been fully characterized.

Atypical glycine encephalopathy is caused by mutations in the SLC6A9 gene on chromosome 1.

Diagnosis

Genetic testing for SLC6A9 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 1 common feature.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

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 atypical glycine encephalopathy.

8 publications have been identified in PubMed for atypical glycine encephalopathy. Research spans Case Report / Case Series (50%), Basic Science / Preclinical (25%), and Review / Meta-Analysis (13%).

Recent Publications

Selvanathan A (2026). [PMID: 41521798](https://pubmed.ncbi.nlm.nih.gov/41521798/). *Journal of inherited metabolic disease*. [Review / Meta-Analysis]
Ferreira EO (2025). [PMID: 40415601](https://pubmed.ncbi.nlm.nih.gov/40415601/). *Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society*. [Case Report / Case Series]
Ma E (2025). [PMID: 40458115](https://pubmed.ncbi.nlm.nih.gov/40458115/). *AJP reports*. [Case Report / Case Series]
Bork F (2024). [PMID: 38783164](https://pubmed.ncbi.nlm.nih.gov/38783164/). *EMBO reports*. [Basic Science / Preclinical]
Marin V (2024). [PMID: 39323869](https://pubmed.ncbi.nlm.nih.gov/39323869/). *Frontiers in genetics*. [Case Report / Case Series]

Data assembled from 7 of 12 sources · Last updated Sep 18, 2026, 9:09 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:617301

Orphanet

European rare disease database

Orphanet:289863

GARD

Genetic and Rare Diseases Info Center

GARD:17334

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→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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atypical glycine encephalopathy

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

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