PYRUVATE-DEHYDROGENASE DEFICIENCY IN A CHILD RESPONSIVE TO THIAMINE TREATMENT

We report the clinical features in a 4-year-old child who was investig ated for a suspected metabolic disorder but was subsequently diagnosed as having a pyruvate dehydrogenase deficiency. A muscle biopsy was pe rformed and the data obtained suggested thiamine treatment which resul ted in a regression of the clinical findings and a return to normal va lues of blood lactic and pyruvic acids. The interruption of thiamine s upplementation after I year of treatment led to a prompt recurrence of the previous clinical and biochemical symptoms.