Pyruvate Dehydrogenase Complex Deficiency

Below you will find more information about Pyruvate Dehydrogenase Complex Deficiency from Medigest. If you believe that you are suffering from any of the symptoms of Pyruvate Dehydrogenase Complex Deficiency it is important that you obtain an accurate diagnosis from a medical professional to ensure that you obtain the correct medication or treatment for your condition. There are medical conditions that carry similar symptoms associated with Pyruvate Dehydrogenase Complex Deficiency and therefore the information provided by Medigest is offered as a guideline only and should never be used in preference to seeking professional medical advice. The information relating to Pyruvate Dehydrogenase Complex Deficiency comes from a third party source and Medigest will not be held liable for any inaccuracies relating to the information shown.

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.

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