Hyperglycerolemia
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http://purl.obolibrary.org/obo/NCIT_C124845
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