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Argininosuccinic aciduria: Long‐term treatment with arginine
Author(s) -
Parsons H. G.,
Scott R. B.,
Pinto A.,
Carter R. J.,
Snyder F. F.
Publication year - 1987
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/bf01800042
Subject(s) - arginine , term (time) , medicine , human genetics , biology , biochemistry , amino acid , physics , quantum mechanics , gene
The presentation and 2 year treatment of a patient with argininosuccinic aciduria is reported. Erythrocyte argininosuccinate lyase activity was less than 2% of normal. Long‐term management included protein restriction and arginine dietary supplementation. The child experienced three episodes of hyperammonaemia (>100 µm), the first at birth, the second at 6.5 months and the third at 16 months. Neurological development deteriorated between 14 and 24 months. Hepatomegaly and biochemical hepatitis, a feature of this condition, was accompanied by enlarged mitochondria with tubular paracrystalline inclusions not previously recognized in this disorder.