Pyruvate dehydrogenase (PDH) deficiency
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Pyruvate dehydrogenase (PDH) deficiency. Pyruvate dehydrogenase is a mitochondrial matrix multienzyme complex. Fully referenced neurology checklist.
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
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Age of onset phenotypes
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Major neurological phenotypes
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Major neurological presentations
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Fixed features
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Recurrent features
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Complications
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Poor prognostic features
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Magnetic resonance imaging (MRI) brain: features
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Other investigations
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Treatment
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References
- Prasad C, Rupar T, Prasad AN. Pyruvate dehydrogenase deficiency and epilepsy. Brain Dev 2011; 33:856-865.
- 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.
- Mellick G, Price L, Boyle R. Late-onset presentation of pyruvate dehydrogenase deficiency. Mov Disord 2004; 19:727-729.
- 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.
- 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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