Abstract
Two cases of typical Hartnup disease and six presumable carrier members through three generations were studied as the first cases in Japan. Cases 1 and 2 showed the typical clinical and laboratory findings of the disease. We carried out paperchrornatographic studies on urine specimens from parents, siblings, maternal first cousins, and maternal and paternal grandmothers and grandfathers.
Two siblings, two maternal first cousins, and maternal and paternal grandfathers who were the first cousins had indicanuria and generalized aminoaciduria. But they had no symptoms suggestive of Hartnup disease. We think they may be carrier members of Hartnup disease.
