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 |
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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