Glycerol kinase deficiency, juvenile form

MedGen UID:: 1842281
•Concept ID:: C5681029
•: Disease or Syndrome

Synonym:	glycerol kinase deficiency, juvenile form

Monarch Initiative:	MONDO:0017295
Orphanet:	ORPHA284411

Definition

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

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVGlycerol kinase deficiency, juvenile form

Abnormal circulating metabolite concentration
- Abnormal circulating organic compound concentration
  - Abnormal circulating carbohydrate concentration
    - Abnormal circulating glycerol level
      - Inborn glycerol kinase deficiency
        Isolated glycerol kinase deficiency
        Glycerol kinase deficiency, juvenile form

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Glycerol kinase deficiency, juvenile form

Definition

Term Hierarchy

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