Infantile glycine encephalopathy

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Infantile glycine encephalopathy

ORPHA:289860Clinical subtype

Also called Infantile NKH · Infantile non-ketotic hyperglycinemia

What it is

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

Key facts

Age of onset
Infancy, Neonatal
Inheritance
Autosomal recessive
Classified as
Clinical subtype

Recorded for the broader condition

Prevalence
1-9 / 1 000 000 (Europe)Glycine encephalopathy

Orphanet records these for the broader condition rather than for this specific form. They are a starting point, not a figure for this subtype — subtypes often differ, and some are defined by being rarer than the condition they sit under.

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 0017354OMIM 605899OMIM 620398OMIM 620423UMLS C5548209

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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