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. 1982;5(4):204-10.
doi: 10.1007/BF02179142.

Role of the liver in the pathogenesis of cerebral disorders in phenylketonuria

Y I Barashnev, V V Korneichuk, A I Klembovsky, L A Klyushina

Role of the liver in the pathogenesis of cerebral disorders in phenylketonuria

Y I Barashnev et al. J Inherit Metab Dis. 1982.

Abstract

Comprehensive studies on structure and function of the liver (biochemical profiles, light and electron microscopy, determination of phenylalanine hydroxylase activity) were performed in children with phenylketonuria (PKU). It was established that the liver is always involved in the pathological process. Comparison of results obtained with peculiarities of neuropsychiatric disorders revealed a dependence of the initial manifestations and the severity of PKU on the extent of enzyme deficiency. Amino acid disorders and abnormal lipid metabolism both contribute to the genesis of cerebral lesions.

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