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Friedreich's ataxia

Intravenous pyruvate load to demonstrate a defect in pyruvate metabolism

From the Institute of Neurology and the Department of Statistical Consultation, St. Radboud University Hospital, Nijmegen, The Netherlands.

Nine patients with typical Friedreich's ataxia had normal levels of pyruvate and lactate in blood, urine, and CSF. Glucose, pyruvate, and lactate levels were also within the reference ranges after oral glucose loading. After intravenous pyruvate loading, the relative increase in blood pyruvate and lactate levels was significantly higher in Friedreich's ataxia patients than in controls. Significant differences between the two groups were also observed in lactate-pyruvate ratios at various times after infusion. The pyruvate loading test can be useful in demonstrating a defect in pyruvate metabolism in Friedreich's ataxia patients.

Address correspondence and reprint requests to Dr. Gahreëls, Institute of Neurology, St. Radboud University Hospital, Box 9101,6500 HB, Nijmegen, The Netherlands.

Accepted for publication March 8, 1984.

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