Debrancher Enzyme Deficiency (DBD)
17:02 Posted by Ahmed Khalil
| Definition |
| one of a group of muscle diseases that interfere with the processing of carbohydrates for energy production. |
| Cause |
| a genetic defect in the debrancher enzyme, which interferes with the breakdown of glycogen (stored sugar) in the muscles and liver |
| Onset |
| infancy to 50s |
| Symptoms |
| weakness, exercise intolerance in adult-onset form; low blood sugar, seizures, enlarged heart and liver, death in childhood common in infantile-onset form; weakness, enlarged liver, growth retardation, low blood sugar, sometimes seizures in childhood-onset form |
| Progression |
| slowly progressive |
| Inheritance |
| autosomal recessive, meaning caused by the contribution of a defective gene from each parent |
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