Some people have genetic disorders that interfere with the way their bodies convert food into energy. Pyruvate dehydrogenase phosphatase deficiency is a genetic defect that can make it hard for you to keep your cells energized, resulting in problems with metabolism and the development of your nervous system. If you have this condition, you may need a special diet.
What is Pyruvate Dehydrogenase Phosphatase?
For your body to convert the compounds derived from fuel into energy, it needs a complex series of chemical reactions known as the Krebs cycle. Many different proteins play an important role in the Krebs cycle, including pyruvate dehydrogenase phosphatase. This protein is critical for making a molecule known as acetyl coA, which is a key intermediary in the Krebs cycle. Ultimately, the Krebs cycle produces molecules, such as adenosine triphosphate or ATP, that cells can use for energy.
Pyruvate Dehydrogenase Phosphatase Deficiency
If you have a genetic mutation in the PDP gene, which is the gene that encodes the pyruvate dehydrogenase phosphatase protein, you have a pyruvate dehydrogenase phosphatase deficiency. This condition causes both metabolic and neurological problems. The main metabolic symptom is elevated levels of lactic acid in the blood, which may be fatal. Neurological problems can occur in the absence of the metabolic issues; common symptoms include lethargy, spastic muscles, mental retardation and seizures.
Diagnosis
Pyruvate dehydrogenase phosphatase deficiency can be difficult to diagnose partly because it is a rare genetic mutation. Your doctor may suspect it based on the appearance of high levels of lactic acid in the blood or due to neurological problems, but a definitive diagnosis requires genetic testing to look for problems in the PDP gene. In some cases the genetic defect may be hard to identify and can require more extensive testing using genetically modified cells.
Treatment
A deficiency of phosphatase dehydrogenase phosphatase can be difficult to treat because it can affect many tissues in the body and alter their metabolism. According to a 2006 article in "Molecular and Cellular Endocrinology," this condition is treatable by putting patients on a high fat diet. The high fat diet also alters the body's metabolism and can help supply acetyl coA through alternate pathways, allowing cells to utilize energy normally.
References
- Rensselaer Polytechnic Institute: Pyruvate Dehydrogenase Phosphatase; Joyce Diwan; 2007
- Online Mendelian Inheritance in Man: Pyruvate Decarboxylase Deficiency; 2011
- "Molecular and Cellular Endocrinology"; Pyruvate dehydrogenase phosphatase deficiency: Orphan disease or an under-diagnosed condition?; M.C. Maj, J.M. Cameron and B.H. Robinson; 2006
