Glycerol kinase deficiency is an X-linked recessive disorder. There are two types, an isolated form and a complex form (chromosome Xp21 deletion syndrome). Isolated glycerol kinase deficiency results from mutations in GK gene. It has an inconstant phenotype, ranging from asymptomatic hyperglycerolemia to a severe metabolic disorder with growth and psychomotor retardation.
X-linked glycerol kinase deficiency in the mouse leads to growth retardation, altered fat metabolism, autonomous glucocorticoid secretion and neonatal death.
