Pyruvate dehydrogenase deficiency in a child responsive to thiamine treatment

O. Pastoris, S. Savasta, P. Foppa, M. Catapano, M. Dossena, P. Ornella

Research output: Contribution to journalArticlepeer-review


We report the clinical features in a 4-year-old child who was investigated for a suspected metabolic disorder but was subsequently diagnosed as having a pyruvate dehydrogenase deficiency. A muscle biopsy was performed and the data obtained suggested thiamine treatment which resulted in a regression of the clinical findings and a return to normal values of blood lactic and pyruvic acids. The interruption of thiamine supplementation after 1 year of treatment led to a prompt recurrence of the previous clinical and biochemical symptoms.

Original languageEnglish
Pages (from-to)625-628
Number of pages4
JournalActa Paediatrica, International Journal of Paediatrics
Issue number5
Publication statusPublished - 1996


  • Enzyme activities
  • Lactic acidosis
  • Pyruvate dehydrogenase deficiency
  • Thiamine

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health


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