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We were unfortunately unable to download the information for this disease from OMIM.
Prevalence of clinical parameters (%)
Add new symptom/sign to this disease
List of symptoms
List of references:
The spectrum of pyruvate dehydrogenase complex deficiency: clinical, biochemical and genetic features in 371 patients.
Kavi P Patel, Thomas W O'Brien, Sankarasubramon H Subramony, Jonathan Shuster, Peter W Stacpoole,
Pyruvate dehydrogenase complex (PDC) deficiency is a genetic mitochondrial disorder commonly associated with lactic acidosis, progressive neurological and neuromuscular degeneration and, usually, death during childhood. There has been no recent comprehensive analysis of the natural history and clinical course of this disease.
Molecular genetics and metabolism - Jan 2012
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