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A new French‐Canadian family affected by hyperargininaemia
Author(s) -
Qureshi I. A.,
Letarte J.,
Ouellet R.,
Larochelle J.,
Lemieux B.
Publication year - 1983
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf02310878
Subject(s) - human genetics , medicine , genetics , biology , gene
A new French‐Canadian family from the province of Quebec is reported, in which a male child was diagnosed as hyperargininaemic after showing positive tests for cystimuria on neonatal screening. The child has no residual activity of erythrocyte arginase, and a plasma arginine level of 633 μmol/l. Both parents have 32–38% of arginase activity. A newborn sister has normal enzyme levels. The propositius did not show abnormal plasma ammonia elevation even after a protein tolerance test (1.5 g protein/kg body weight) but excretes high levels of urinary orotate (845 mg/g creatinine). At 3 1/2 years of age the hyperargininaemic child had started showing abnormal gait, ataxia and slowing of intellectual development. It is suggested that all newborn children showing cystimuria‐lysinuria pattern of amino acid excretion be tested for arginase deficiency.