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Mild variant of argininosuccinic aciduria
Author(s) -
Schutgens R. B. H.,
Beemer F. A.,
Tegelaers W. H. H.,
Groot W. P.
Publication year - 1979
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/bf01805556
Subject(s) - argininosuccinate lyase , arginine , short stature , microcephaly , citrullinemia , argininosuccinate synthase , cystine , lyase , ataxia , heterozygote advantage , medicine , excretion , biology , endocrinology , genetics , biochemistry , enzyme , amino acid , arginase , urea cycle , gene , allele , neuroscience , cysteine
A 7 1/2‐year‐old boy with a massive excretion of argininosuccinic acid is described. He exhibited only moderate mental retardation, cerebellar ataxia and both abnormal hair and skin. Argininosuccinate lyase activity in the erythrocytes of his parents and his sister was in the range expected for heterozygotes. The patient was put on a low protein diet with arginine supplementation and improved clinically and biochemically on this regime. The variability of the phenotypic expression of argininosuccinate lyase deficiency is stressed.