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Crigler‐Najjar type II disease inheritance: A family study
Author(s) -
Labrune P.,
Myara A.,
Hennion C.,
Gout J. P.,
Trivin F.,
Odievre M.
Publication year - 1989
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/bf01799221
Subject(s) - penetrance , genetics , inheritance (genetic algorithm) , disease , medicine , consanguinity , biology , gene , phenotype
Summary The inheritance of Crigler‐Najjar type II disease is still contested. Autosomal dominant transmission with incomplete penetrance and autosomal recessive transmission have been proposed. We had the opportunity to study the hepatic activity of bilirubin uridinediphosphate glucuronyltransferase in parents whose first child had been affected by Crigler‐Najjar type II disease. The demonstration of reduced activity of glucuronidation in the liver of both parents suggests autosomal recessive inheritance. The second infant of this couple was affected by the same disease and was treated with success by phenobarbital.