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Isolated glycerol kinase deficiency

Synonym(s) Hyperglycerolemia
Prevalence Unknown
Inheritance X-linked recessive
Age of onset All ages
  • E74.8
  • C0574108
  • C538138
MedDRA -


Disease definition

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 (see these terms)).

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