Absence of argininosuccinate lyase protein in the liver of two patients with argininosuccinic aciduria

Clinica Chimica Acta; International Journal of Clinical Chemistry
K KobayashiM Mino

Abstract

The enzyme defects in two cases of argininosuccinic aciduria were examined at the molecular level by enzymatic and immunological methods. No argininosuccinate lyase activity was detected in the liver or erythrocytes of either patient nor in the kidney or brain of one of the patients even in the presence of high concentrations of the substrate. The titration curve of antiserum to human argininosuccinate lyase with the liver extract from a control subject was not affected by the addition of the liver extracts from one of the patients. Double immunodiffusion analysis revealed a single precipitin line between the purified antiserum and the liver extract from a control, but no precipitin lines between the antisera and the liver extracts from the two patients. These results indicate a complete or almost complete defect of an immunologically cross-reactive material in the liver of the patients.

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Citations

Dec 1, 1987·Clinica Chimica Acta; International Journal of Clinical Chemistry·T SahekiT Noda
Dec 10, 1999·Journal of Chemical Neuroanatomy·H NakamuraM Kawabuchi
Dec 29, 2007·Liver Transplantation : Official Publication of the American Association for the Study of Liver Diseases and the International Liver Transplantation Society·Tanya NewnhamAvihu Boneh
Feb 7, 2019·Journal of Inherited Metabolic Disease·Julien BaruteauJohannes Häberle
Jun 3, 2015·Molecular and Cellular Biology·Yi-Sheng HouZheng-Hong Qin
Feb 1, 1989·Scottish Medical Journal·I H WhiteD J Lloyd

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