Pyruvate dehydrogenase complex deficiency
PDH deficiency

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Prevalence (%) of clinical parameters based on data from 1 references describing 371 individuals







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 Pubmed id number as a reference Organ system affected
Number of patients in the reference Percent affected patients (Between 0 and 1, eg. 0.1 = 10%)
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List of symptoms



Symptom/sign Organ system Percent affected Pubmed id Added on(yyyy-mm-dd) Edit/add reference
Lactate accumulation multi 100 % 22079328 2014-05-06
Developmental delay nervous 57 % 22079328 2014-05-06
Hypotonia nervous 46 % 22079328 2014-05-06
Ventricular enlargement brain nervous 35 % 22079328 2014-05-06
Corpus callosum agenesis nervous 31 % 22079328 2014-05-06
Seizures nervous 26 % 22079328 2014-05-06
Microcephaly nervous 22 % 22079328 2014-05-06
Ataxia nervous 19 % 22079328 2014-05-06
Cerebral atrophy nervous 19 % 22079328 2014-05-06
Respiratory distress respiratory 14 % 22079328 2014-05-06
Basal ganglia pathology nervous 14 % 22079328 2014-05-06
Facial dysmorphism skeletal 11 % 22079328 2014-05-06
Spasticity nervous 10 % 22079328 2014-05-06
Neuropathy nervous 7 % 22079328 2014-05-06
Optic atrophy nervous 4 % 22079328 2014-05-06
Nystagmus nervous 3 % 22079328 2014-05-06
Ptosis nervous 3 % 22079328 2014-05-06
Chorea nervous 2 % 22079328 2014-05-06
Strabismus nervous 2 % 22079328 2014-05-06



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,



Molecular genetics and metabolism - Jan 2012