Pyruvate dehydrogenase deficiency in a child responsive to thiamine treatment.
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.
Pastoris
O
O
Institute of Pharmacology, Science Faculty, University of Pavia, Italy.
Savasta
S
S
Foppa
P
P
Catapano
M
M
Dossena
M
M
D001706:Biopsy; D002675:Child, Preschool; D006801:Humans; D008297:Male; D018482:Muscle, Skeletal / Q000201:enzymology / Q000473:pathology; D015325:Pyruvate Dehydrogenase Complex Deficiency Disease / Q000188:drug therapy* / Q000473:pathology; D012008:Recurrence; D013831:Thiamine / Q000627:therapeutic use*
D013831:Thiamine