Photodermatose mit Aminoacidurie, Indolaceturie und cerebralen Manifestationen (Hartnup-Syndrom)

Hartnup disease

“…body wt. There is an unusually high incidence of photosensitivity in apparently non-affected relatives (Weyers & Bickel, 1958;Halvorsen & Halvorsen, 1963;Pomeroy et al 1968) suggesting some degree of nicotinamide deficiency. There is, therefore, suggestive evidence of somewhat decreased intestinal amino-acid transport in heterozygotes but no urinary abnormality.…”

Congenital Tryptophanuria with Dwarfism

“…The patients with H disease are reported to show a renal type of aminoaciduria and an excessive excretion of indican and indoleacetic acid.2,13) There are reports that the patients with H disease excrete free amino acids, 13,14) in amounts of five to ten times normal, 200 to 400 mg of indican per day (100 mg or less in normal subjects)15) and 50 to 200 mg of indoleacetic acid per day (10 mg or less in normal subjects).12.13) The present patient indicates a slightly higher level of urinary amino acids with the amino acid pattern characterized by a striking increase in tryptophan alone. Excretion of indican and indoleacetic acid in our own patient is not elevated.…”