TY - JOUR
T1 - Amino acid and enzyme studies of brain and other tissues in an infant with argininosuccinic aciduria
AU - Perry, Thomas L.
AU - Wirtz, Mary L.K.
AU - Kennaway, Nancy G.
AU - Edward Hsia, Y.
AU - Atienza, Fernando C.
AU - Uemura, Herbert S.
N1 - Funding Information:
We are grateful to Mr. C. Burkey for assistancew ith the enzyme assays,t o Mrs. Shirley Hansen and Mrs. Maureen Murphy for help with the amino acid analyses of brain, to Dr. T. Thelen for the thin-layer chromatography, and to Dr. N.R.M. Buist and Dr. R.D. Koler for consultation and for reviewing this manuscript. This research was supported by grants to T.L.P. from the Medical Research Council of Canada, to N.G.K. from the National Institutes of Health (AM 17906) and the National Foundation, March of Dimes (l-621), to M.L.K.W. from the N.L. Tartar Research Fellowship Fund, and to Y.E.H. from the National Foundation, March of Dimes (C-297).
PY - 1980
Y1 - 1980
N2 - Amino acid contents were measured in four regions of autopsied brain from an infant who presented in coma at the age of 7 weeks and died with argininosuccinic aciduria. Argininosuccinic acid lyase activity was greatly reduced in liver, kidney and cultured skin fibroblasts; incorporation of [14C]citrulline into protein by fibroblasts was minimal. Argininosuccinic acid lyase activity in brain was only slightly lower than that in control infant brain. Nevertheless, the brain showed extensive microscopic changes and a marked accumulation of argininosuccinic acid, varying between regions from 1.8 to 4.4 mmol/1. Brain contents of glutamine, glutamic acid, and α-amino-n-butyric acid were also greatly elevated, with a lesser elevation of citrulline, and a normal arginine content. These studies suggest genetic heterogeneity of tissue enzymes in argininosuccinic aciduria and offer some clues about pathogenesis of the neurological damage often seen in this disorder.
AB - Amino acid contents were measured in four regions of autopsied brain from an infant who presented in coma at the age of 7 weeks and died with argininosuccinic aciduria. Argininosuccinic acid lyase activity was greatly reduced in liver, kidney and cultured skin fibroblasts; incorporation of [14C]citrulline into protein by fibroblasts was minimal. Argininosuccinic acid lyase activity in brain was only slightly lower than that in control infant brain. Nevertheless, the brain showed extensive microscopic changes and a marked accumulation of argininosuccinic acid, varying between regions from 1.8 to 4.4 mmol/1. Brain contents of glutamine, glutamic acid, and α-amino-n-butyric acid were also greatly elevated, with a lesser elevation of citrulline, and a normal arginine content. These studies suggest genetic heterogeneity of tissue enzymes in argininosuccinic aciduria and offer some clues about pathogenesis of the neurological damage often seen in this disorder.
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U2 - 10.1016/0009-8981(80)90468-4
DO - 10.1016/0009-8981(80)90468-4
M3 - Article
C2 - 7398094
AN - SCOPUS:0018848644
SN - 0009-8981
VL - 105
SP - 257
EP - 267
JO - Clinica Chimica Acta
JF - Clinica Chimica Acta
IS - 2
ER -