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

Authors Information
Article Notes and Dates
To Cite : Rostami P, Häberle J, Setoudeh A, Zschocke J, Sayarifard F. et al. 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.
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 .

Search Relations:



Create Citiaion Alert via Google Reader

Cited By:

Iranian Journal of Pediatrics accepts terms & conditions of:

International Committee of Medical Journal Editors (ICMJE) Citedby Linking DOI enabled Crossref iThenticate COPE Cross Check