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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
General
carbohydrate inborn error of metabolism
Database Correlations
OMIM 307030
References
OMIM :accession 307030