Pyruvate Dehydrogenase E1-Alpha Deficiency

Pyruvate dehydrogenase complex (PDHc) deficiency due to mutations in the PDHA1 gene is an X-linked inborn error of mitochondrial energy metabolism. Defects in the PDH complex are an important cause of primary lactic acidosis, and clinical symptoms of patients with a PDH complex deficiency vary considerably, ranging from intermittent ataxia to a progressive disease with mental retardation and neurological complications to an early neonatal presentation with severe lactic acidosis and early death. Dysmorphic features including hypertelorism, a long narrow prominent forehead, long philtrum, thin lips, scarce eyelashes, cranial asymmetry, small hands and feet; short inferior limbs and hypospadias have also been described. Equal numbers of affected males and females have been identified. Males typically present with severe neonatal lactic acidosis while the presentation in females is more variable and is dependent upon the pattern of X-inactivation. Females have been reported with a severe phenotype that includes microcephaly, spastic quadriplegia, severe epilepsy and cortical/subcortical atrophy.

Tests Available

Forms and Documents

Test Details

  • 1. Confirmation of biochemical diagnosis
  • 2. Carrier testing
  • 3. Prenatal diagnosis in at risk pregnancies
  • Capillary Sequencing


4-5 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs


  • 276.2 Acidosis Acidosis
  • 277.87 Disorders of mitochondrial metabolism, Kearns-Sayre syndrome, Mitochondrial Encephalopathy, Lactic Acidosis and Stroke-like episodes (MELAS syndrome), Mitochondrial Neurogastrointestinal Encephalopathy syndrome (MNGIE), Myoclonus with Epilepsy and with Ragged Red Fibers (MERRF syndrome), Neuropathy, Ataxia and Retinitis Pigmentosa (NARP syndrome)
  • 330.8 Other specified cerebral degenerations in childhood, Alpers' disease or gray-matter degeneration, Infantile necrotizing encephalomyelopathy, Leigh's disease, Subacute necrotizing, encephalopathy or encephalomyelopathy
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  1. Ridout et al., (2008) Hum Genet 124:187-193
  2. Lissens et al., (2000) Hum Mutat 15:209-219
  3. Brown et al., (2006) Dev Med Child Neurol 48:756-760
  4. Quintana et al., (2010) Clin Genet 77:474-482