There are no cures for pyruvate dehydrogenase deficiency (PDHD). However, there are a few treatments available, with goals to include stimulating the pyruvate dehydrogenase complex (PDHC). Treatments serves to provide alternative sources of energy and preventing immediate, acute worsening of the condition. However, even with treatment, damage to the central nervous system is prevailing.
The lack of pyruvate dehydrogenase complex forces the glucose to only go one pathway, which is to produce lactic acid, which is harmful to the body if in high concentration. Lactic acid accumulation may be lessened by giving a high fat/low carbohydrate (ketogenic) diet. Scientists are still researching on ways to cure PDHD. There is some evidence that a medication called dichloroacetate may reduce the metabolic issues in some patients.
The standard of care is to supplement cofactors, which are substances in the body that help the chemical reactions in the cells to occur; these include thiamine, carnitine, and lipoid acid. The individuals with PDH deficiency that respond to these cofactors usually have a better outcome. However, giving all of these cofactors to all patients with PDH deficiency is typical in order to optimise pyruvate dehydrogenase complex function. Oral citrate is often used to treat acidosis, which is a condition where excessive acid is present in the body.
Supplement alone will not be able to reduce and sustain an acceptable amount of lactic acid in the body. People who suffer from PDHD are required to live with a ketogenic diet. A ketogenic diet refers to a diet that is high in fat and low in carbohydrate. It is low in carbohydrate as to avoid having glucose, the most common carbohydrate, in the systems of people suffering from PDHD. Since people who suffers from PDHD lack the pyruvate dehydrogenase complex, they are unable to metabolise glucose into another compound. As such, the glucose is converted to lactate, which is also known as lactic acid, and will build up in the body. Examples of food with high fat and low carbohydrate contents are oils, cheese, beef, pork, egg, coconut and avocados.
Supplement alone will not be able to reduce and sustain an acceptable amount of lactic acid in the body. People who suffer from PDHD are required to live with a ketogenic diet. A ketogenic diet refers to a diet that is high in fat and low in carbohydrate. It is low in carbohydrate as to avoid having glucose, the most common carbohydrate, in the systems of people suffering from PDHD. Since people who suffers from PDHD lack the pyruvate dehydrogenase complex, they are unable to metabolise glucose into another compound. As such, the glucose is converted to lactate, which is also known as lactic acid, and will build up in the body. Examples of food with high fat and low carbohydrate contents are oils, cheese, beef, pork, egg, coconut and avocados.
Why must there be supplement cofactors?
ReplyDeleteHi! Thank you for the question:) Well patients with PDCD are often given cofactor supplements such as thiamine, carnitine and lipoic acid. This is because the pyruvate dehydrogenase complex is made up of three types of components/subunits [E1(thiamine), E2(lipoic),E3(FAD/NAD+)] and in some cases of PDCD, these patients lack these subunits.Therefore pyruvate dehydrogenase complex is unable to carry out the function of catalysing the conversion of pyruvate to acetyl-CoA. Consumption of these subunits will help to optimise PDC's function. However, while it will aid in optimising the function it will not restore the function of PDC.
ReplyDeleteThose with cases of mutation gene that will be translated for the protein that folds into PDC, will not be able to use supplement cofactors as a form of treatment as a protein chain that does not contain the correct amino acid will have a different function.