Glycerol kinase deficiency, juvenile form

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Glycerol kinase deficiency, juvenile form

ORPHA:284411Clinical subtype

What it is

Juvenile glycerol kinase deficiency (GKD) is an uncommon form of GKD characterized by Reye-like clinical manifestations including episodic vomiting, acidemia, and disorders of consciousness.

Key facts

Age of onset
Adolescent, Childhood
Inheritance
X-linked recessive
Classified as
Clinical subtype

Gene

GKDisease-causing germline mutation(s)

ICD-10 codes

E74.8filed under a broader ICD-10 category — shared with 15 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 0017295OMIM 307030UMLS C5681029

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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