Direct treatment that stimulates the pyruvate<unk>  complex (PDC), provides alternative fuels, and prevents acute worsening of the syndrome. However, some correction of acidosis does not reverse all the symptoms. CNS damage is common and limits a full recovery. Ketogenic diets, with high fat and low carbohydrate intake have been used to control or minimize lactic acidosis and anecdotal evidence shows successful control of the disease, slowing progress and often showing rapid improvement. Ketogenic baby formulas such as Nutricia KetoCal are available. With the ketogenic diet, ATP is synthesized by the catabolism of fatty acids rather than glucose, which produces the ketone bodies, 3-beta-hydroxybutyrate, acetoacetate, and acetone. Ketone bodies serve as an alternate source of energy for the body and the brain. Preliminary data from<unk> D patients on the ketogenic diet indicate that in milder cases, there is a reduction in the frequency of seizures, abnormal EEG readings, ataxia and abnormal sleeping patterns, and extension of remission periods. More severe cases are less responsive to the ketogenic diet, but have displayed modest improvement of gross and fine motor skills, speech and language development and development of social skills. The ketogenic diet has several long term drawbacks, including pancreatitis, sialorrhea and obstipation to vomiting. Patients must be monitored regularly for blood lactate levels, transaminase and plasma ketone levels. There is some evidence that dichloroacetate reduces the inhibitory phosphorylation of pyruvate<unk>  complex and thereby activates any residual functioning complex. Resolution of lactic acidosis is observed in patients with E1 alpha enzyme subunit mutations that reduce enzyme stability. However, treatment with dichloroacetate does not improve neurological damage. Oral citrate is often used to treat acidosis. Clinical trials to improve scientific and medical understanding of PDCD are underway. More information is located at ClinicalTrials.gov.
Pyruvate dehydrogenase deficiency
Glutaminase deficiency
Pyruvate carboxylase deficiency
Pyruvate kinase deficiency
3-Methylcrotonyl-CoA carboxylase deficiency
Malonyl-CoA decarboxylase deficiency
2-Methylbutyryl-CoA dehydrogenase deficiency
D-glycerate dehydrogenase deficiency