pyruvate decarboxylase E1 component deficiency (PDHE1 deficiency)
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Epidemiology
- most common enzyme defect in patients with primary lactic acidosis
Genetics
- associated with defects in PDHA1 (PDHE1-A type 1) & PDHB (PDHE1-beta)
- in some cases associated with an X-linked Leigh syndrome
Clinical manifestations
- variable clinical phenotypes ranging from neonatal death to prolonged survival complicated by developmental delay, seizures, ataxia, apnea