Hartnup Disease

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Abstract
Two cases of typical Hartnup disease and 6 presumable carrier members through 3 generations were studied as the 1st cases in Japan. Cases 1 and 2 showed the typical clinical and laboratory findings of the disease. Paper chromatographic studies were run on urine specimens from parents, siblings, maternal 1st cousins, and maternal and paternal grandmothers and grandfathers. Two siblings, 2 maternal 1st cousins, and maternal and paternal grandfathers who were the 1st cousins had indicanuria and generalized aminoaciduria. But they had no symptoms suggestive of Hartnup disease. They may be carrier members of Hartnup disease.

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