Hartnup Disorder in a New England Family

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Abstract
IN 1956 Baron et al.1 described an autosomal recessive syndrome characterized by episodes of cerebellar ataxia, intermittent photosensitive pellagra-like rash and mental retardation; it was accompanied by a renal aminoaciduria of tryptophan and other neutral amino acids and an excess of urinary indoles. Further reports have shown that the clinical features lack uniformity and the biochemical abnormality can be associated with normal physical and mental health.2 The basic error is a defect of amino acid transport into the cells of the small intestine and the proximal renal tubules. It has been surprising that to date no cases have been reported . . .