Atypical glycine encephalopathy

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Atypical glycine encephalopathy

ORPHA:289863Clinical subtype

Also called Atypical non-ketotic hyperglycinemia · Atypical NKA

What it is

A rare form of glycine encephalopathy presenting disease onset or clinical manifestations that differ from neonatal or infantile glycine encephalopathy.

Key facts

Prevalence
<1 / 1 000 000
Age of onset
All ages
Inheritance
Unknown
Classified as
Clinical subtype

Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.

Genes

AMTDisease-causing germline mutation(s) (loss of function)
GCSHDisease-causing germline mutation(s)
GLDCDisease-causing germline mutation(s)
SLC6A9Disease-causing germline mutation(s)

ICD-10 codes

E72.5filed under a broader ICD-10 category — shared with 7 other rare diseases

ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.

Related health topics

Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.

Cross-references

MONDO 0015010OMIM 605899OMIM 617301OMIM 620398OMIM 620423UMLS C5548198

Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.

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