Citrate Treatment in a Patient with Pyruvate Decarboxylase Deficiency

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Abstract
A 5 yr old boy with intermittent sopor, severe vomiting and ataxia since he was 2 1/2 yr old is described. During attack periods the patient showed elevation of blood pyruvate and alanine and also CSF pyruvate; during the time free from attacks only blood pyruvate was increased. A pyruvate decarboxylase deficiency was found in the patient''s leukocytes and cultured skin fibroblasts. Addition of thiamine to the assay medium did not correct the enzyme activity. Oral administration of citrate seemed to be most effective, and during this treatment only one mild attack was observed.