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Isolated glycerol kinase deficiency
rareIsolated 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 ).
- Identifiers
- MONDO:0018459 Orphanet:408
- Also known as
- hyperglycerolemia · isolated inborn glycerol kinase deficiency · nonsyndromic glycerol kinase deficiency · nonsyndromic inborn glycerol kinase deficiency
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