Isolated glycerol kinase deficiency

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

0 clinical trials for this condition and its sub-types, 0 tagged with Isolated glycerol kinase deficiency itself.