Abstract
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 language | English |
|---|---|
| Pages (from-to) | 625-628 |
| Number of pages | 4 |
| Journal | Acta Paediatrica, International Journal of Paediatrics |
| Volume | 85 |
| Issue number | 5 |
| Publication status | Published - 1996 |
Keywords
- Enzyme activities
- Lactic acidosis
- Pyruvate dehydrogenase deficiency
- Thiamine
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health
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Cite this
Pastoris, O., Savasta, S., Foppa, P., Catapano, M., Dossena, M., & Ornella, P. (1996). Pyruvate dehydrogenase deficiency in a child responsive to thiamine treatment. Acta Paediatrica, International Journal of Paediatrics, 85(5), 625-628.