Definition:
Pyruvate dehydrogenase complex deficiency is a common neurodegenerative disorder that involves abnormal mitochondrial metabolism. It deprives the body from producing energy due to a dysfunctional lactate buildup. The main feature of this disease is the degeneration of gray matter with foci of necrosis as well as the proliferation of capillaries in the brainstem.
Diagnosis:
The disease can be diagnosed via imaging studies such as MRI. Laboratory testing is also conduct to observe the cell's enzyme production and citric acid cycle.
Treatment:
PDC is treated by correction of acidosis in the cells; however the effects brought about by the disease are no longer reversible. Patients with the disease are given cofactor supplements such as carnitine, thiamine and lipoic acid. Parents are also advised to undergo genetic counseling to correct the disorder. Ketogenic diets are also recommended to prevent further progress of the disease.
Symptoms and Signs:
Among the symptoms of pyruvate dehydrogenase complex deficiency are slow development, ataxia, abnormal eye functions, seizures as well as poor muscle tone. These symptoms can be observed at childbirth or during the early stages of a child's growth. Progressive mental retardation can also result due to the effects of PDC on the brain.
Causes:
The condition is caused by abnormalities within the cell's mitochondria. Pyruvate dehydrogenase enzymes are not completely developed or produced resulting to such problems in a person's growth and development.
:
pyruvatedehydrogenasecomplexdeficiency
The information on this site is for research purposes only and can not substitute for the advice of a medical professional. Ailments.com is not run by doctors and does not engage in the practice of medicine. Our site is not a medical authority, it is just a research tool for you to use in preparation for consulting with a doctor. We can not guarantee our information is accurate or up to date. Even if a statement made about a medical condition is accurate, it may not apply to you or your symptoms, so you should always consult a doctor. Nothing on our site should be construed as an attempt to offer or render a medical opinion or otherwise engage in the practice of medicine.
