Pyruvate Dehydrogenase Complex Deficiency
Pyruvate Dehydrogenase Complex Deficiency 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.
Pyruvate Dehydrogenase Complex Deficiency 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.
Pyruvate Dehydrogenase Complex Deficiency 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.
Pyruvate Dehydrogenase Complex Deficiency 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.
Pyruvate Dehydrogenase Complex Deficiency 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.