What is another word for Pyruvate Dehydrogenase Complex Deficiency Disease?
Pronunciation: [pˈa͡ɪɹuːvˌe͡ɪt dˌiːha͡ɪdɹˈə͡ʊd͡ʒne͡ɪs kˈɒmplɛks dɪfˈɪʃənsi dɪzˈiːz] (IPA) 
Pyruvate Dehydrogenase Complex Deficiency Disease, also known as PDHC deficiency, is a rare genetic disorder that affects the body's ability to convert food into energy. This condition is caused by a mutation in the genes responsible for making the enzymes needed for the Pyruvate Dehydrogenase Complex. Symptoms of the disease include developmental delays, neurologic problems, muscle weakness, and seizures. While PDHC deficiency is the commonly used term, there are several synonyms for this condition. It can also be referred to as Pyruvate Dehydrogenase Deficiency, PDH deficiency disease, or simply PDH deficiency. Although rare, proper diagnosis and management of this disorder is essential for individuals living with PDHC deficiency.
