Premium
Role of the liver in the pathogenesis of cerebral disorders in phenylketonuria
Author(s) -
Barashnev Y. I.,
Korneichuk V. V.,
Klembovsky A. I.,
Klyushina L. A.
Publication year - 1982
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf02179142
Subject(s) - phenylalanine hydroxylase , pathogenesis , pathological , amino acid metabolism , medicine , endocrinology , human genetics , phenylalanine , enzyme deficiency , enzyme , amino acid , metabolism , biology , biochemistry , gene
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.