Lactate Dehydrogenase Deficiency
16:59 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 lactate dehydogenase enzyme , which normally converts pyruvate to lactate and vice versa to recycle the byproducts of carbohydrate metabolism |
| Onset |
| early adulthood |
| Symptoms |
| exercise intolerance, episodes of myoglobinuria (rust-colored urine indicating breakdown of muscle tissue); a skin rash is common |
| Progression |
| not progressive |
| Inheritance |
| autosomal recessive, or caused by the contribution of a defective gene from each parent |
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