€57,48 €47,50 excl. VAT
Glucose-6-phosphatase (G-6-Pase) catalyses the terminal steps in both gluconeogenesis and glycogenolysis.
10 working days
From €5,95 shipping and administration per order (incl. VAT)
Specifications
| Breeds | |
|---|---|
| Gene | |
| Organ | |
| specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | |
| Chromosome | |
| Also known as | |
| Year Published |
General information
Glucose-6-phosphatase (G-6-Pase) catalyses the terminal steps in both gluconeogenesis and glycogenolysis. The enzyme is active in high levels in the liver, kidneys, intestine and pancreas. Deficiency of G-6-Pase enzyme causes glycogen storage disease type Ia (GSD-Ia/GSD1a) (von Gierke disease), an autosomal recessive disorder.
Clinical features
One of the hallmark symptoms of GSD-Ia is recurrent episodes of low blood sugar (hypoglycemia). This is due to the inability of the body to release stored glucose from glycogen when needed, leading to inadequate fuel for the body's energy needs. This accumulation of glycogen can occur in the cells of the liver and kidney causing an enlarged liver (hepatomegaly) or kidney (nehromegaly) and potentially distention of the abdomen. It can also cause delays in growth and development due to the inability to properly metabolize energy.
Other symptoms can include: 1) elevated levels of fats (lipids) in the blood (hyperlipidemia), including cholesterol and triglycerides. 2) buildup of lactic acid in the body can occur due to the impaired metabolic pathways in GSD-Ia. This can lead to fatigue, muscle weakness, and other symptoms. 3) elevated levels of uric acid in the blood can occur in GSD-Ia, leading to an increased risk of gout and kidney stones. 4) during episodes of hypoglycemia, individuals may display symptoms such as weakness, sweating, tremors, confusion, and in severe cases, seizures or loss of consciousness.
Additional information
References
Pubmed ID: 9259982
Omia ID: 418