TY - JOUR
T1 - Hartnup Disease
T2 - Clinical, Pathological, and Biochemical Observations
AU - Tahmoush, Albert J.
AU - Alpers, David H.
AU - Feigin, Ralph D.
AU - Armbrustmacher, Vernon
AU - Prensky, Arthur L.
PY - 1976/12
Y1 - 1976/12
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=0017220948&partnerID=8YFLogxK
U2 - 10.1001/archneur.1976.00500120001001
DO - 10.1001/archneur.1976.00500120001001
M3 - Article
C2 - 999542
AN - SCOPUS:0017220948
SN - 0003-9942
VL - 33
SP - 797
EP - 807
JO - Archives of neurology
JF - Archives of neurology
IS - 12
ER -