Diagnosis of PDCD

The diagnosis of pyruvate dehydrogenase (PDH) deficiency may be considered in any individual with early-onset neurological disease, especially if it appears to be associated with structural abnormalities in the brain and unexplained lactic acidosis.

When it seems that lactic acid (also called lactate) and pyruvate are not significantly high in the blood , an important clue to the diagnosis may be high concentrations of lactate and/or pyruvate in the cerebrospinal fluid (the fluid that surrounds the brain and spinal cord).

Magnetic resonance spectroscopy (MRS), a radiology medical imaging technique which helps to determine level of metabolites, may be used for diagnosis.
It can help to discover lactate concentration in our central nervous system.  Serum and urine amino acids tested usually shows hyperalaninemia. When lactic acidosis is present, other disorders involving pyruvate abnormalities are part of the differential diagnosis.

However, in all of these conditions, the diagnosis is based on specific laboratory tests. Detailed tests are being implemented to determine the enzymatic activity of the PDH complex and also the different components of the complex ( cofactors such as thiamine). Most of the patients that suffers from PDCD usually are being discovered to have lack of E1 enzyme.



Source:
National Institues of Health (NIH), Office of Rare Disease Research. (2011). Pyruvate dehydrogenase deficiency. Retrieved from Genetic and Rare Diseases Information Center website: http://rarediseases.info.nih.gov/GARD/Condition/7513/QnA/29055/Pyruvate_dehydrogenase_deficiency.aspx