Version: 8.1.0
Date: Fri Apr 18 2025
glycerol kinase deficiency
DOID:0060363
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

glycerol kinase deficiency

Definition
An inherited metabolic disorder characterized_by wide range of phenotypic variability; patients can have severe metabolic and CNS abnormalities, while others possess hyperglycerolemia and glyceroluria with no other apparent phenotype and that has_material_basis_in mutation in the GK gene on chromosome Xp21.
Synonyms
None
Cross References
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