PEDIATRICS Vol. 31 No. 1 January 1963, pp. 29-38
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HARTNUP DISEASE

Karin Halvorsen 1 and Sverre Halvorsen 1

1 Children's Hospital and Pediatric Research Laboratory, Rikshospitalet, Oslo, Norway

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.

Accepted on May 15, 1962