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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)

Abstract

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.

Keywords

Argininosuccinic aciduria Pheburane® Sodium phenylbutyrate 

Abbreviations

ASLD

Argininosuccinate lyase deficiency

NaPB

Sodium phenylbutyrate

QOL

Quality of life

UCD

Urea cycle disorder

Notes

Acknowledgments

We thank Pamela Lewis and Yves Kibleur for editorial assistance.

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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

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