Phosphoglycerate Kinase Deficiency
17:00 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 phosphoglycerate kinase enzyme, which normally breaks down glucose (sugar) for energy production |
| Onset |
| infancy to early adulthood |
| Symptoms |
| may cause anemia, enlargement of the spleen, mental retardation and epilepsy (seizures); more rarely, weakness, exercise intolerance, muscle cramps and episodes of myoglobinuria (rust-colored urine indicating breakdown of muscle tissue) |
| Progression |
| muscle symptoms slowly progressive |
| Inheritance |
| X-linked recessive, meaning mostly affects males, although females are carriers |
0 comments:
Post a Comment