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La Glucosa-6-fosfatasa (G-6-Pase) cataliza los pasos terminales en gluconeogénesis y glicogenolisis.
10 días laborables
Especificaciones
| Breeds | |
|---|---|
| Gene | |
| Organ | |
| specimen | Hisopo, sangre EDTA, sangre Heparina, Semen, Tejido |
| Mode of Inheritance | |
| Chromosome | |
| Also known as | |
| Year Published |
Información específica de la prueba
La Glucosa-6-fosfatasa (G-6-Pase) cataliza los pasos terminales en gluconeogénesis y glicogenolisis. La enzima es activa en niveles altos en el hígado, los riñones, el intestino y el páncreas. La deficiencia de la enzima G-6-Pase causa el tipo Ia (GSD-Ia) (enfermedad de von Gierke) de la enfermedad del almacenaje del glicógeno), un desorden autosómico recesivo.
Características clínicas
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.
Información adicional
Referencias
Pubmed ID: 9259982
Omia ID: 418