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 table) are among the fatty acid and glycerol metabolism disorders.
See also Approach to the Patient With a Suspected Inherited Disorder of Metabolism.
Glycerol kinase deficiency is X-linked; 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. (See also testing for suspected inherited disorders of metabolism.)
Glycerol metabolism disorder treatment is with a low-fat diet, but glucocorticoid replacement is critical for patients with adrenal hypoplasia.
Glycerol Metabolism Disorders
Disease (OMIM Number) | Defective Proteins or Enzymes | Comments |
|---|---|---|
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 | — | 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 |
* For complete gene, molecular, and chromosomal location information, see the Online Mendelian Inheritance in Man (OMIM) database. | ||
More Information
The following English-language resource may be useful. Please note that THE MANUAL is not responsible for the content of this resource.
Online Mendelian Inheritance in Man (OMIM) database: Complete gene, molecular, and chromosomal location information
