One Year Experience of Pheburane® (Sodium Phenylbutyrate) Treatment in a Patient with Argininosuccinate Lyase Deficiency

  • Sema Kalkan UçarEmail author
  • Burcu Ozbaran
  • Yasemin Atik Altinok
  • Melis Kose
  • Ebru Canda
  • Mehtap Kagnici
  • Mahmut Coker
Case Report
Part of the JIMD Reports book series (JIMD, volume 19)


Argininosuccinate lyase deficiency (ASLD) is a urea cycle disorder (UCD) treated with dietary adjustment and nitrogen scavenging agents. “Pheburane®” is a new tasteless and odour-free formulation of sodium phenylbutyrate, indicated in the treatment of UCD.

A male patient diagnosed with ASLD was put on treatment with the new formulation of sodium phenylbutyrate (granules) for a period of one year, at 500 mg/kg orally in 3 intakes/day. Plasma glutamine, arginine, citrulline, argininosuccinate, serum sodium, potassium, liver function tests and urine orotate all remained unchanged over this period. There was no difference in mean ammonia levels before and after treatment, and no hyperammonemia episode occurred during treatment with Pheburane®. An improvement in a measurement of quality of life (QOL) was noted after treatment with Pheburane®.

Conclusion: Good metabolic control and improved QOL were achieved throughout the treatment period.


Argininosuccinic aciduria Pheburane® Sodium phenylbutyrate 



Argininosuccinate lyase deficiency


Sodium phenylbutyrate


Quality of life


Urea cycle disorder



We thank Pamela Lewis and Yves Kibleur for editorial assistance.


  1. Brusilow SW, Maestri NE (1996) Urea cycle disorders: diagnosis, pathophysiology, and therapy. Adv Pediatr 43:127–170PubMedGoogle Scholar
  2. Brusilow SW, Tinker J, Batshaw M (1980) Amino acid acylation: a mechanism of nitrogen excretion in inborn errors of urea synthesis. Science 207:659–661CrossRefPubMedGoogle Scholar
  3. Erez A (2013) Argininosuccinic aciduria: from a monogenic to a complex disorder. Genet Med 15:251–257CrossRefPubMedGoogle Scholar
  4. Ferriero R, Manco G, Lamantea E et al (2013) Phenylbutyrate therapy for pyruvate dehydrogenase complex deficiency and lactic acidosis. Sci Transl Med 175:1–26Google Scholar
  5. Guffon N, Kibleur Y, Copalu W et al (2012) Developing a new formulation of sodium phenylbutyrate. Arch Dis Child 97:1081–1085CrossRefPubMedGoogle Scholar
  6. Kibleur Y, Dobbelaere D, Barth M et al (2014) Results from a nationwide cohort temporary utilization authorization (ATU) survey of patients in France treated with Pheburane® (sodium phenylbutyrate) taste-masked granules. Paediatr Drugs. doi: 10.1007/s40272-014-0081-5 PubMedCentralPubMedGoogle Scholar
  7. Nagamani SC, Lee B, Erez A (2012) Optimizing therapy for argininosuccinic aciduria. Mol Genet Metab 107:10–14PubMedCentralCrossRefPubMedGoogle Scholar
  8. Smith W, Diaz GA, Lichter-Konecki U et al (2013) Ammonia control in children ages 2 months through 5 years with urea cycle disorders: comparison of sodium phenylbutyrate and glycerol phenylbutyrate. J Pediatr 162:1228–1234PubMedCentralCrossRefPubMedGoogle Scholar
  9. Uneri OS, Agaoglu B, Coskun A et al (2008) Validity and reliability of pediatric quality of life ınventory for 2- to 4-year-old and 5- to 7-year-old Turkish children. Qual Life Res 17:307–315CrossRefPubMedGoogle Scholar

Copyright information

© SSIEM and Springer-Verlag Berlin Heidelberg 2014

Authors and Affiliations

  • Sema Kalkan Uçar
    • 1
    Email author
  • Burcu Ozbaran
    • 2
  • Yasemin Atik Altinok
    • 1
  • Melis Kose
    • 1
  • Ebru Canda
    • 1
  • Mehtap Kagnici
    • 1
  • Mahmut Coker
    • 1
  1. 1.Division of Pediatric Metabolism and Nutrition, Department of Pediatrics, Faculty of MedicineEge UniversityİzmirTurkey
  2. 2.Child and Adolescent Psychiatry DepartmentİzmirTurkey

Personalised recommendations