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Glycerol Metabolism Disorders

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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 Table) are among the fatty acid and glycerol metabolism disorders.

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. (Also see 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

Defective Gene or Genes (Chromosomal Location)

Comments

Glycerol kinase deficiency (307030)

Glycerol kinase

GK (xp21.3-p21.2)*

(Complex form: Deletion of the GK gene and contiguous genes including congenital adrenal hypoplasia, Duchenne muscular dystrophy, or both

Juvenile and adult forms: Isolated GK gene mutation)

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, CNS 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-biphosphatase 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

*Gene has been identified, and molecular basis has been elucidated.

OMIM = online mendelian inheritance in man (see the OMIM database ).

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