Hartnup Disease: Clinical, Pathological, and Biochemical Observations

Albert J. Tahmoush, David H. Alpers, Ralph D. Feigin, Vernon Armbrustmacher, Arthur L. Prensky

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10 Scopus citations

Abstract

Hartnup disease is a rare genetic disorder of amino acid transport associated with variable and intermittent clinical abnormalities. A family is described in which three siblings had an intermittently progressive neurological disease and two of the affected siblings had the Hartnup-pattern aminoaciduria. Neuropathological examination of one case showed severe diffuse atrophy, generalized neuronal loss in the cortex, and Purkinje cell loss in the cerebellum. In vivo and in vitro studies of intestinal amino acid transport in the surviving sibling indicated a partial defect in the transport of several neutral amino acids (tryptophan, alanine, serine, and methionine) with normal transport of other neutral amino acids (threonine, phenylalanine, histidine, tyrosine, and isoleucine). Transport of glycine, proline, hydroxyproline, and the basic amino acids appeared normal.

Original languageEnglish
Pages (from-to)797-807
Number of pages11
JournalArchives of neurology
Volume33
Issue number12
DOIs
StatePublished - Dec 1976

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