" /> Hyperglycerolemia - CISMeF





Preferred Label : Hyperglycerolemia;

NCIt synonyms : Glycerol Kinase Deficiency; GKD;

NCIt definition : 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.;

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29/07/2025


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