Tyrosinosis. A study of 6 cases

Abstract

Six children with liver cirrhosis, renal tubular defects, vitamin D-resistant rickets, and abnormal tyrosine metabolism are described. The 6 children came from 3 different Norwegian families, 2 children being affected in each family. Similar cases previously described as tyrosinaemia, hepatorenal dysfunction, or hypermethioninaemia were probable examples of the same metabolic disorder, tyrosinosis. Five patients died in an acute stage of the disease. The enzyme p-hydroxyphenylpyruvate oxidase in liver and kidney was absent in one case, and hypermethioninaemia was present in another. One patient survived in a chronic stage, and from the age of 2 years was successfully treated with a low phenylalanine, low tyrosine diet.