Pyruvate dehydrogenase (PDH) deficiency

Biochemistry

• Pyruvate dehydrogenase is a mitochondrial matrix multienzyme complex
• It catalyses the conversion of pyruvate to acetyl-CoA
• This links glycolysis and the tricarboxylic acid (TCA) cycle

Genetic types

Age of onset phenotypes

Major neurological phenotypes

Fixed features

Recurrent features

Complications

Magnetic resonance imaging (MRI) brain: features

Other investigations

Treatment

References

1. Prasad C, Rupar T, Prasad AN. Pyruvate dehydrogenase deficiency and epilepsy. Brain Dev 2011; 33:856-865.
2. Eirís J, Alvarez-Moreno A, Briones P, Alonso-Alonso C, Castro-Gago M. Pyruvate dehydrogenase deficiency and cerebral malformations. Rev Neurol 1996; 24:1272-1275. 
3. Mellick G, Price L, Boyle R. Late-onset presentation of pyruvate dehydrogenase deficiency. Mov Disord 2004; 19:727-729.
4. Willemsen M, Rodenburg RJ, Teszas A, van den Heuvel L, Kosztolanyi G, Morava E. Females with PDHA1 gene mutations: a diagnostic challenge. Mitochondrion 2006; 6:155-159. 
5. Giribaldi G, Doria-Lamba L, Biancheri R, et al. Intermittent-relapsing pyruvate dehydrogenase complex deficiency: a case with clinical, biochemical, and neuroradiological reversibility. Dev Med Child Neurol 2012; 54:472-476.
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