pediatrics
Glycerol Metabolism Disorders
Introduction
Glycerol is converted to glycerol-3-phosphate by the hepatic enzyme glycerol kinase; deficiency results in episodic vomiting, lethargy, and hypotonia. Glycerol metabolism disorders (see the Glycerol Metabolism Disorders ) are among the See also Approach to the Patient With a Suspected Inherited Disorder of Metabolism . Glycerol kinase deficiency is X-Linked Recessive ; many patients with this deficiency also have a chromosomal deletion that extends beyond the glycerol kinase gene into the contiguous gene region, which contains the genes for congenital adrenal hypoplasia and Duchenne muscular dystrophy. Thus, patients with glycerol kinase deficiency may have one or more of these disease entities. Symptoms of glycerol metabolism disorders begin at any age and are usually accompanied by acidosis, hypoglycemia, and elevated blood and urine levels of glycerol. Diagnosis of glycerol metabolism disorders is by detecting an elevated level of glycerol in serum and urine and is confirmed by DNA analysis. (Also see Initial testing .) Glycerol metabolism disorder treatment is with a low-fat diet, but glucocorticoid replacement is critical for patients with adrenal hypoplasia. 