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La glucosio-6-fosfatasi (G-6-Pase) catalizza le fasi terminali sia nella gluconeogenesi che nella glicogenolisi.
Working days 10
Specifiche
| Breeds | |
|---|---|
| Gene | |
| Organ | |
| specimen | Tampone, Sangue in EDTA, Sangue in Eparina, Seme, Tessuto |
| Mode of Inheritance | |
| Chromosome | |
| Also known as | |
| Year Published |
Informazioni generali
La glucosio-6-fosfatasi (G-6-Pase) catalizza le fasi terminali sia nella gluconeogenesi che nella glicogenolisi. L’enzima è attivo in alti livelli nel fegato, nei reni, nell’intestino e nel pancreas. La carenza dell’enzima G-6-Pase causa la malattia da accumulo di glicogeno di tipo Ia (GSD-Ia) (malattia di von Gierke), una malattia autosomica recessiva.
Caratteristiche cliniche
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.
Informazioni aggiuntive
Riferimenti
Pubmed ID: 9259982
Omia ID: 418