Pyruvate dehydrogenase complex deficiency
PDH deficiency

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We were unfortunately unable to download the information for this disease from OMIM.



Prevalence of clinical parameters (%)







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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
Ventriculomegaly 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,

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