The Tohoku Journal of Experimental Medicine
Online ISSN : 1349-3329
Print ISSN : 0040-8727
ISSN-L : 0040-8727
Clinical and Biochemical Studies on Periodic Hyperammonemia with Hyperlysinemia and Homocitrullinuria
KAZUHIKO OYANAGIHIDEAKI SOGAWASHIGEO SATOTADAO ORIITOORU NAKAOSHIGERU FUJITA
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1976 Volume 120 Issue 2 Pages 105-112

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Abstract
An 18-year-old mentally and physically retarded boy, suffering from episodes of anorexia, vomiting, coma and convulsion which have been severer with advance in age, had periodic hyperammonemia, hyperlysinemia and homocitrullinuria. Blood cell arginase activity of the patient on normal diet was markedly reduced after an oral load of Y. -lysine. The oral loading tests of L-lysine revealed hyperammonemia, hyperlysinemia, hyperargininemia, hypercitrullinemia and homocitrullinuria. Etiology of metabolic error of our patient was discussed in reference to lysine-urea cycle.
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