glycerol kinase deficiency (GK deficiency)

Genetics

• associated with defects in glycerol kinase gene

Clinical manifestations

• can be either symptomatic with episodic metabolic & CNS decompensation or asymptomatic with hyperglycerolemia & hyperglyceroluria only

More general terms

• carbohydrate inborn error of metabolism

Database

• OMIM: https://mirror.omim.org/entry/307030