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Article
December 1976

Hartnup DiseaseClinical, Pathological, and Biochemical Observations

Author Affiliations

From the Departments of Neurology (Drs Tahmoush and Prensky), Pediatrics (Drs Feigin and Prensky), and Medicine (Dr Alpers), Washington University School of Medicine, St Louis; and the Department of Neuropathology, Armed Forces Institute of Pathology, Washington, DC (Dr Armbrustmacher). Dr Tahmoush is now at Walter Reed Army Institute of Research, Washington, DC.

Arch Neurol. 1976;33(12):797-807. doi:10.1001/archneur.1976.00500120001001
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.

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