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Isolated glycerol kinase deficiency

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)).

ORPHA:408

Classification level: Disorder
  • Synonym(s):
    • Hyperglycerolemia
  • Prevalence: Unknown
  • Inheritance: X-linked recessive 
  • Age of onset: All ages
  • ICD-10: E74.8
  • OMIM: 307030
  • UMLS: C0268418  C0574108
  • MeSH: C538138
  • GARD: 2807
  • MedDRA: -

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