HARTNUP DISEASE

Publisher Website
Google Scholar
Abstract
Two cases of Hartnup disease in a Norwegian family with four children from unrelated parents are described. They have the typical pellagra-like rash and the H-pattern of aminoaciduria. The urinary indole excretion was markedly increased in both. Neomycin treatment prior to tryptophan loading prevented the usual increase in indolic acids. A third sibling had the same urinary indole chromatogram but neither clinical symptoms nor the H-pattern of aminoaciduria. In both proven cases there were hair anomalies, in Case 1 pathological electroencephalographic findings, and in Case 2 a hypoglycemic reaction during a glucose tolerance test. On the basis of a review of the literature and our own experiences, it is concluded that nicotinamide or combined vitamin B preparations have a definite value during acute exacerbations, and that they probably improve the photosensitivity of the skin. The vitamin therapy does not influence the abnormal excretion of amino acids.

This publication has 0 references indexed in Scilit: