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Isolated glycerol kinase deficiency

Orpha number ORPHA408
Synonym(s) Hyperglycerolemia
Prevalence Unknown
Inheritance X-linked recessive
Age of onset All ages
ICD-10
  • E74.8
ICD-O -
OMIM
UMLS
  • C0574108
MeSH
  • C538138
MedDRA -

Summary

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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Detailed information

Emergency guidelines
  • EN (2012,pdf)
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