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inborn glycerol kinase deficiency

Disease Summary
Associated Targets (2)


Mondo Description An acquired metabolic disease that is has its basis in the disruption of glycerol kinase activity.
Uniprot Description A metabolic disorder manifesting as 3 clinically distinct forms: infantile, juvenile, and adult. The infantile form is the most severe and is associated with severe developmental delay and adrenal insufficiency. Patients with the adult form have no symptoms and are often detected fortuitously. GKD results in hyperglycerolemia, a condition characterized by the accumulation of glycerol in the blood and urine.
Disease Ontology Description 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.
Mondo Term and Equivalent IDs
MONDO:0010613:  inborn glycerol kinase deficiency