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Pyruvate dehydrogenase deficiency in a child responsive to thiamine treatment
Author(s) -
Pastoris O,
Savasta S,
Foppa P,
Catapano M,
Dossena M
Publication year - 1996
Publication title -
acta pædiatrica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.772
H-Index - 115
eISSN - 1651-2227
pISSN - 0803-5253
DOI - 10.1111/j.1651-2227.1996.tb14104.x
Subject(s) - thiamine , medicine , pyruvate dehydrogenase complex , pyruvic acid , endocrinology , pediatrics , biochemistry , enzyme , biology
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.