€57,48 €47,50 excl. VAT
Glucose-6-phosphatase (G-6-Pase) catalyses the terminal steps in both gluconeogenesis and glycogenolysis.
10 working days
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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) (von Gierke disease), an autosomal recessive disorder.
Clinical features
GSD-Ia has a long list of possible symptoms; tremors, irritability, hyperventilation, cyanosis, apnea, convulsions, sweating, pallor, cerebral edema or dysfunction. Nose bleeding, hyperuricemia, enlarged kidneys, liver shows an enlargement at birth or shortly thereafter, causing an abdominal protuberance due to the massive hepatomegaly. Steatosis and xanthoma might be found on surfaces such as elbows and knees. When fasting: hypoglycaemia, hepatomegaly, nephromegaly and hyperlipidaemia.
Additional information
References
Pubmed ID: 9259982
Omia ID: 418
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