Idiopathic copper toxicosis

Abstract

I read with interest the article by Müller et al,1 in which they describe 8 children in 5 families in Northern Germany who had infantile liver cirrhosis with clinical and pathologic findings compatible with idiopathic copper toxicosis. The family pedigree strongly suggested an autosomal mode of inheritance, and a strong possibility of increased alimentary copper exposure was found.1 Although the search for all those cases from several hospital databases excluded “common causes of infantile liver disease” such as αl- antitrypsin deficiency, viral hepatitis, galactosemia, fructose intolerance, glycogen storage disorders, tyrosinemia, congenital bile duct abnormalities, familial cholestatic syndromes, and Wilson disease, the authors made no mention at all of investigations to rule out inborn errors of bile acid metabolism, which also have an autosomal recessive mode of inheritance, as described in their patients, and may be associated with hepatic copper overload.