inborn glycerol kinase deficiency

Findings

No curated finding names inborn glycerol kinase deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Definition

Onset and course

Adult onset · Juvenile onset · Childhood onset

HPO, annotations 2026-09-02

What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.

Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.

Where it sits

A kind of

• inborn errors of metabolism

Narrower terms (3)

• chromosome Xp21 deletion syndrome
• glycerol kinase deficiency, infantile form
• isolated glycerol kinase deficiency

Resolves to: inborn glycerol kinase deficiency

Also called

glycerol kinase deficiencyglycerol kinase deficiency, X-linked recessiveinborn error of glycerol kinase activityinborn glycerol kinase activity disorderrare inborn error of glycerol kinase activity