Iranian Journal of Pediatrics

Published by: Kowsar

Two Novel Mutations in the Argininosuccinate Lyase Gene in Iranian Patients and Literature Review

Parastoo Rostami 1 , 2 , 3 , * , Johannes Häberle 4 , Arya Setoudeh 2 , 3 , Johannes Zschocke 5 and Fatemeh Sayarifard 1 , 2 , 3
Authors Information
1 Growth and Development Research Center, Tehran University of Medical Sciences, Tehran, IR Iran
2 Department of Pediatrics, Tehran University of Medical Sciences, Tehran, IR Iran
3 Children’s Medical Center, Pediatrics Center of Excellence, Tehran, Iran
4 Devision of Metabolism, University Children’s Hospital Zurich and Children’s Research Centre, Zurich, Switzerland
5 Division of Human Genetics, Medical University Innsbruck, Innsbruck, Austria
Article information
  • Iranian Journal of Pediatrics: June 2017, 27 (3); e7666
  • Published Online: May 26, 2017
  • Article Type: Case Report
  • Received: June 25, 2017
  • Revised: February 17, 2017
  • Accepted: April 14, 2017
  • DOI: 10.5812/ijp.7666

To Cite: Rostami P, Häberle J, Setoudeh A, Zschocke J, Sayarifard F. Two Novel Mutations in the Argininosuccinate Lyase Gene in Iranian Patients and Literature Review, Iran J Pediatr. 2017 ; 27(3):e7666. doi: 10.5812/ijp.7666.

Copyright © 2017, Iranian Journal of Pediatrics. This is an open-access article distributed under the terms of the Creative Commons Attribution-NonCommercial 4.0 International License ( which permits copy and redistribute the material just in noncommercial usages, provided the original work is properly cited.
1. Introduction
2. Case Presentation
3. Discussion
  • 1. Nassogne MC, Heron B, Touati G, Rabier D, Saudubray JM. Urea cycle defects: management and outcome. J Inherit Metab Dis. 2005; 28(3): 407-14[DOI][PubMed]
  • 2. Trevisson E, Salviati L, Baldoin MC, Toldo I, Casarin A, Sacconi S, et al. Argininosuccinate lyase deficiency: mutational spectrum in Italian patients and identification of a novel ASL pseudogene. Hum Mutat. 2007; 28(7): 694-702[DOI][PubMed]
  • 3. Solitare GB, Shih VE, Nelligan DJ, Dolan TF. Argininosuccinic aciduria: clinical, biochemical, anatomical and neuropathological observations. J Ment Defic Res. 1969; 13(3): 153-70[PubMed]
  • 4. Mori T, Nagai K, Mori M, Nagao M, Imamura M, Iijima M, et al. Progressive liver fibrosis in late-onset argininosuccinate lyase deficiency. Pediatr Dev Pathol. 2002; 5(6): 597-601[DOI][PubMed]
  • 5. Ficicioglu C, Mandell R, Shih VE. Argininosuccinate lyase deficiency: longterm outcome of 13 patients detected by newborn screening. Mol Genet Metab. 2009; 98(3): 273-7[DOI][PubMed]
  • 6. Linnebank M, Homberger A, Rapp B, Winter C, Marquardt T, Harms E, et al. Two novel mutations (E86A, R113W) in argininosuccinate lyase deficiency and evidence for highly variable splicing of the human argininosuccinate lyase gene. J Inherit Metab Dis. 2000; 23(4): 308-12[PubMed]
  • 7. Linnebank M, Tschiedel E, Haberle J, Linnebank A, Willenbring H, Kleijer WJ, et al. Argininosuccinate lyase (ASL) deficiency: mutation analysis in 27 patients and a completed structure of the human ASL gene. Hum Genet. 2002; 111(4-5): 350-9[DOI][PubMed]
Creative Commons License Except where otherwise noted, this work is licensed under Creative Commons Attribution Non Commercial 4.0 International License .

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