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 I year of treatment led to a prompt recurrence of the previous clinical and biochemical symptoms.
Pyruvate dehydrogenase deficiency in a child responsive to thiamine treatment
Savasta S;
1996-01-01
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 I year of treatment led to a prompt recurrence of the previous clinical and biochemical symptoms.File in questo prodotto:
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