glycerol kinase deficiency

Term ID

DOID:0060363

Synonyms

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. (2)

References

• OMIM:307030
• ORDO:408
• SNOMEDCT_US_2023_03_01:297256008
• UMLS_CUI:C0574108

Ontology

Human Disease   ( DOID:0060363 )