isolated glycerol kinase deficiency
Isolated glycerol kinase deficiency (GKD) is a very rare X-linked disorder of glycerol metabolism characterized biochemically by elevated plasma and urine glycerol levels, and clinically by variable neurometabolic manifestations, depending on the age of onset, and varying from a life-threatening childhood metabolic crisis to an asymptomatic adult form (infantile GKD, juvenile GKD, and adult GKD ). [ ]
Term info
isolated glycerol kinase deficiency
- hyperglycerolemia
- isolated inborn glycerol kinase deficiency
- nonsyndromic glycerol kinase deficiency
- nonsyndromic inborn glycerol kinase deficiency
ordo_disease
http://purl.obolibrary.org/obo/Orphanet_408
MONDO:0018459
https://icd.codes/icd10cm/E74.8
https://github.com/monarch-initiative/mondo-build/issues/49