Terminology Service for NFDI4Health

Hyperglycerolemia

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A rare, X-linked recessive genetic disorder of glycerol metabolism caused by mutations or deletion in the GK gene. It results in deficiency of the enzyme glycerol kinase. It is characterized by elevated plasma and urine glycerol levels and neurometabolic manifestations which can cause life-threatening metabolic crisis in children. [ ]

Term info

Label

Hyperglycerolemia

Synonyms
  • GKD
  • Glycerol Kinase Deficiency
  • Hyperglycerolemia
Preferred Name

Hyperglycerolemia

Semantic Type

Disease or Syndrome

UMLS CUI

C0268418

code

C124845