Isolated glycerol kinase deficiency
Isolated glycerol kinase deficiency
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 ).
Also known as hyperglycerolemia, isolated inborn glycerol kinase deficiency, nonsyndromic glycerol kinase deficiency, nonsyndromic inborn glycerol kinase deficiency — per MONDO