Genetics-Pyruvate Dehydrogenase Complex

The Genetics Doctor called today.  The results of Aggies muscle biopsy are back.  The muscle was tested twice. One test showed 7% muscle function and the other showed 40% muscle function. 50% is normal. The reason for the variation is that PDC is an X carried gene mutation.  Girls have two X's per gene.  So if one X is 7% then the other could be pulling the weight. Based on Aggies "clinical findings" (small head, brain damage,ect) it is evident that the brain is affected by the mutation.  If Aggie were male she would likely no longer be with us.  Since she is female, prognosis varies, but rarely exceeds 20 years of age.  The treatment is a ketogenic diet. We will go to Birmingham next Wednesday to learn about it.  The diet is suppose to prevent further damage to the cells by primarily using fat for energy instead of carbohydrates.

This is a portion of wikipedia's definition that explains it well.

"Pyruvate dehydrogenase (PDH) deficiency is a congenital degenerative metabolic disease resulting from a mutation of the pyruvate dehydrogenase complex (PDC) located on the X chromosome. Although defects have been identified in all 3 enzymes of the complex, the E1-α subunit is predominantly the culprit. Malfunction of the citric acid cycle due to PDH deficiency deprives the body of energy and leads to an abnormal buildup of lactate."