Glycerol is converted by the hepatic enzyme glycerol kinase to glycerol-3-phosphate. A deficiency leads to vomiting, lethargy and hypotension.
Glycerol metabolic disorders (see table) belonging to the fatty acid and glycerol metabolic disorders.
Glycerol is converted by the hepatic enzyme glycerol kinase to glycerol-3-phosphate. A deficiency leads to vomiting, lethargy and hypotension. Glycerol metabolic disorders (see table) belonging to the fatty acid and glycerol metabolic disorders. See also approach in a patient with suspected congenital metabolic disorder A Glyzerinkinasemangel is X-linked inherited. Many sufferers also report on another chromosome deletion that spans the glycerol kinase gene and into the adjacent gene region containing the genes for congenital adrenal hypoplasia and Duchenne muscular dystrophy. This patient may also suffer with a Glyzerinkinasemangel in addition to one or the other disease. Symptoms of Glycerolstoffwechselstörung begin at any age and are usually accompanied by acidosis, hypoglycemia, and increased Glyzerinspiegeln in the blood and urine. The diagnosis of Glycerolstoffwechselstörung is confirmed by an increase in the glycerol in the blood and urine frame by DNA analysis. (See also check on suspicion of inherited metabolic disorders.) Treatment of Glycerolstoffwechselstörung is a low-fat diet; in patients with adrenal hypoplasia substitution with glucocorticoids is vital. Disorders of Glyzerinstoffwechsels disease (OMIM number) defects proteins or enzymes defective gene or genes (chromosomal location) Remarks Glyzerinkinasemangel (307030) glycerol kinase GK (Xp21.3-p21.2) * (complex shape: deletion of the GK gene and the contiguous genes, including congenital adrenal hypoplasia, Duchenne muscular dystrophy, or both juvenile and adult forms: Isolated GK gene mutation) Biochemical profile: Hyperglycerolämie Clinical features: In the complex form of the symptoms juve linen shape to those of the deletions or more specific genes associated In the juvenile form episodic vomiting, acidosis, hypotension, CNS depression, Reye’s syndrome In the adult form Pseudohypertriglyzeridämie treatment: Low-fat diet, avoid prolonged fasting Glyzerinintoleranz syndrome – – Biochemical Profile: hypoglycemia, ketonuria, reports on decreased activity of fructose-1,6-biphosphatase, and increased sensitivity of this enzyme for the inhibition of glycerol-3-phosphate Clinical features: history of premature birth; after exposure to glycerol hypoglycemia, lethargy, sweating, seizures, coma treatment: Low-fat diet * The gene was identified and the molecular basis has been elucidated. OMIM = Online Mendelian Inheritance in Man (see OMIM database).