Glycerol Metabolism Disorders

Glycerol kinase deficiency (307030*)

Glycerol kinase

Biochemical profile: Hyperglycerolemia

Clinical features: In the complex form, symptoms of the juvenile form, in addition to those due to the specific gene or genes deleted

In the juvenile form, episodic vomiting, acidosis, hypotonia, central nervous system depression, Reye-like syndrome

In the adult form, pseudohypertriglyceridemia

Treatment: Low-fat diet, avoidance of prolonged fasting

Glycerol intolerance syndrome

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Biochemical profile: Hypoglycemia, ketonuria, reports of decreased activity of fructose-1,6-bisphosphatase and increased sensitivity of this enzyme to the inhibition of glycerol-3-phosphate

Clinical features: History of prematurity; after exposure to glycerol, hypoglycemia, lethargy, sweating, seizure, coma

Treatment: Low-fat diet