Pyruvate Dehydrogenase E1-Beta Deficiency

Pyruvate dehydrogenase (PDH) deficiency is a highly heterogeneous disorder that is one of the major causes of severe primary lactic acidosis in the newborn period and infancy. It can also present as a more chronic neurodegenerative disease with extensive cerebral atrophy and structural anomalies in the brain, as Leigh syndrome or as episodic ataxia. The majority of cases of PDH deficiency (~60% to >80%) are due to mutations in the PDHA1 gene that encodes the pyruvate dehydrogenase E1 ?-subunit (see separate information sheet for details on PDHA1 gene analysis). Features of PDH deficiency due to mutations in the PDHB gene, that encodes the E1 beta-subunit of pyruvate dehydrogenase, are similar to those seen in patients with PDHA1 mutations except that ataxia appears to be more frequent in PDHA1 cases. Consanguinity is more common in the families with PDHB gene mutations.

Tests Available

Forms and Documents

Test Details

  • Confirmation of biochemical diagnosis
  • Carrier testing
  • 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. Brown et al., (2004) Hum Genet 115:123-127
  2. Okajima et al., (2008) Mol Genet Metab 93:371-380
  3. Brown et al., (2006) Dev Med Child Neurol 48:756-760