Journal
PEDIATRIC NEUROLOGY
Volume 43, Issue 5, Pages 351-354Publisher
ELSEVIER SCIENCE INC
DOI: 10.1016/j.pediatrneurol.2010.06.007
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Adenylosuccinate lyase deficiency is an autosomal recessive disorder of purine metabolism resulting from mutations in the ADSL gene on chromosome subband 22q13.1 and associated with a wide range of clinical manifestations. Although there is currently no effective treatment of ADSL deficiency, recognition of the condition is important, because prenatal genetic diagnosis can be offered to affected families. Reported here are the cases of the only three children diagnosed to date in the United Kingdom with adenylosuccinate lyase deficiency, to further delineate the clinical phenotype and to raise awareness of this disorder. (C) 2010 by Elsevier Inc. All rights reserved.
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