Abstract
At present, two variants of ASL-deficiency, the second most common enzyme defect of the urea cycle, have been described according to the mode of onset and the clinical course. Nearly all previous studies reported on an impaired neurological and intellectual development in affected children. Our study demonstrates for the first time, that these children can develop physically and mentally appropriate for age if treated with low protein diet and/or arginine supplementation.
Since 1975 16 Austrian children have been detected to be suspicious for this enzyme defect. After having confirmed the diagnosis, a daily arginine supplementation (3-4 mmoles/kg body weight/day) was initiated in all but three children in addition to normal diet respectively to recommended protein restriction of 1,2 - 1,5 g/kg body weight/day. Except for slight elevations, blood ammonia levels remained within the normal range over the time. EEG patterns showed paroxysmal abnormalities in 5 out of 16 children, whereas physical and mental development were within the normal range.
It can be concluded, that early diagnosis of ASL-deficiency within a routine screening program followed by dietetic treatment (low protein and/or arginine substitution) seems to be able to prevent intercurrent hyperammonemia episodes, that cause severe neurological and psychomotoric abnormalities. Furthermore, an accumulation of argininosuccinic acid and its anhydrids does not seem to have a neurotoxic effect.
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Koch, S., Scheibenreiter, S., Knoll, E. et al. 135 LONGTERM FOLLOW UP OF 16 CHILDREN AFFECTED WITH THE “LATE ONSET” VARIANT OF ARGININOSUCCINATE LYASE DEFICIENCY: NO IMPAIRMENT OF THE NEUROLOGICAL AND PSYCHOMOTORIC DEVELOPMENT. Pediatr Res 30, 650 (1991). https://doi.org/10.1203/00006450-199112000-00165
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DOI: https://doi.org/10.1203/00006450-199112000-00165