Glycerol kinase deficiency (GKD) or hyperglycerolemia is a rare X-linked metabolic disorder caused by loss of glycerol kinase and characterized by accumulation of glycerol in blood and urine. There are three clinically defined forms - infantile, juvenile and adult. Infantile GKD can be severe with strong developmental delays and metabolic dysfunction and appears to result from contiguous deletions that take out glycerol kinase in addition to one or more neighboring genes responsible for congenital adrenal hypoplasia and/or Duchenne muscular dystrophy (DMD) (see our Muscular Dystrophy page for stocks relevant to DMD). The juvenile form is also variable with cases similar in severity to the infantile form, however, juvenile GKD is not associated with deletions of neighboring genes. The adult form is mildest and is often detected fortuitously.

General information links for Glycerol kinase deficiency:
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