Pyruvate dehydrogenase complex deficiency |
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Prevalence (%) of clinical parameters based on data from 1 references describing 371 individuals
Lactate accumulation
Developmental delay
Hypotonia
Ventricular enlargement brain
Corpus callosum agenesis
Seizures
Microcephaly
Ataxia
Cerebral atrophy
Basal ganglia pathology
Respiratory distress
Facial dysmorphism
Spasticity
Neuropathy
Optic atrophy
Nystagmus
Ptosis
Chorea
Strabismus
Add new symptom/sign to this disease
| 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%) | ||
| Please provide your name and contact information as a reference | |||
| Name | Institute | Phone number | Email address |
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