Developmental medicine and child neurology · 1981
A patient with pyruvate carboxylase deficiency in the liver: treatment with aspartic acid and thiamine.
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Baal M G, Gabreëls F J, Renier W O, Hommes F A, Gijsbers T H, Lamers K J, Kok J C
Аннотация
A seven-year-old girl with slowly progressive motor neurological impairment and high levels of lactate and pyruvate in blood and cerebrospinal fluid was found to have severe hepatic pyruvate carboxylase deficiency. However, in contrast to other patients with this deficiency, no mental retardation was apparent. Treatment with aspartic acid and thiamine over a period of seven years resulted in biochemical improvement and a stable neurological condition. The level of cognitive functioning remained the same. When treatment with aspartic acid was temporarily discontinued, lactate and pyruvate concentrations increased so markedly that the drug was resumed. This indicates that aspartic acid was the effective drug, and that the effect of thiamine was secondary.