Literature DB >> 27000017

Switch from Sodium Phenylbutyrate to Glycerol Phenylbutyrate Improved Metabolic Stability in an Adolescent with Ornithine Transcarbamylase Deficiency.

Alexander Laemmle1, Tamar Stricker1, Johannes Häberle2.   

Abstract

A male patient, born in 1999, was diagnosed with ornithine transcarbamylase deficiency as neonate and was managed with a strict low-protein diet supplemented with essential amino acids, L-citrulline, and L-arginine as well as sodium benzoate. He had an extensive history of hospitalizations for hyperammonemic crises throughout childhood and early adolescence, which continued after the addition of sodium phenylbutyrate in 2009. In December 2013 he was switched to glycerol phenylbutyrate, and his metabolic stability was greatly improved over the following 7 months prior to liver transplant.

Entities:  

Keywords:  Glycerol phenylbutyrate; Hyperammonemia; Ornithine transcarbamylase deficiency; Sodium phenylbutyrate; Urea cycle disorder

Year:  2016        PMID: 27000017      PMCID: PMC5388640          DOI: 10.1007/8904_2016_551

Source DB:  PubMed          Journal:  JIMD Rep        ISSN: 2192-8304


  16 in total

Review 1.  Urea cycle disorders: diagnosis, pathophysiology, and therapy.

Authors:  S W Brusilow; N E Maestri
Journal:  Adv Pediatr       Date:  1996

Review 2.  A longitudinal study of urea cycle disorders.

Authors:  Mark L Batshaw; Mendel Tuchman; Marshall Summar; Jennifer Seminara
Journal:  Mol Genet Metab       Date:  2014-08-10       Impact factor: 4.797

3.  Phenylacetylglutamine may replace urea as a vehicle for waste nitrogen excretion.

Authors:  S W Brusilow
Journal:  Pediatr Res       Date:  1991-02       Impact factor: 3.756

4.  Pharmacology and safety of glycerol phenylbutyrate in healthy adults and adults with cirrhosis.

Authors:  Brendan M McGuire; Igor A Zupanets; Mark E Lowe; Xunjun Xiao; Vasyliy A Syplyviy; Jon Monteleone; Sharron Gargosky; Klara Dickinson; Antonia Martinez; Masoud Mokhtarani; Bruce F Scharschmidt
Journal:  Hepatology       Date:  2010-06       Impact factor: 17.425

5.  Ammonia control in children ages 2 months through 5 years with urea cycle disorders: comparison of sodium phenylbutyrate and glycerol phenylbutyrate.

Authors:  Wendy Smith; George A Diaz; Uta Lichter-Konecki; Susan A Berry; Cary O Harding; Shawn E McCandless; Cindy LeMons; Joe Mauney; Klara Dickinson; Dion F Coakley; Tristen Moors; Masoud Mokhtarani; Bruce F Scharschmidt; Brendan Lee
Journal:  J Pediatr       Date:  2013-01-13       Impact factor: 4.406

6.  1H MRS identifies symptomatic and asymptomatic subjects with partial ornithine transcarbamylase deficiency.

Authors:  A L Gropman; S T Fricke; R R Seltzer; A Hailu; A Adeyemo; A Sawyer; J van Meter; W D Gaillard; R McCarter; M Tuchman; M Batshaw
Journal:  Mol Genet Metab       Date:  2008-07-26       Impact factor: 4.797

7.  Cross-sectional multicenter study of patients with urea cycle disorders in the United States.

Authors:  Mendel Tuchman; Brendan Lee; Uta Lichter-Konecki; Marshall L Summar; Marc Yudkoff; Stephen D Cederbaum; Douglas S Kerr; George A Diaz; Margaretta R Seashore; Hye-Seung Lee; Robert J McCarter; Jeffrey P Krischer; Mark L Batshaw
Journal:  Mol Genet Metab       Date:  2008-06-17       Impact factor: 4.797

Review 8.  Adherence issues in inherited metabolic disorders treated by low natural protein diets.

Authors:  A MaCdonald; M van Rijn; F Feillet; A M Lund; L Bernstein; A M Bosch; M Gizewska; F J van Spronsen
Journal:  Ann Nutr Metab       Date:  2012-12-03       Impact factor: 3.374

9.  Glycerol phenylbutyrate treatment in children with urea cycle disorders: pooled analysis of short and long-term ammonia control and outcomes.

Authors:  Susan A Berry; Uta Lichter-Konecki; George A Diaz; Shawn E McCandless; William Rhead; Wendy Smith; Cynthia Lemons; Sandesh C S Nagamani; Dion F Coakley; Masoud Mokhtarani; Bruce F Scharschmidt; Brendan Lee
Journal:  Mol Genet Metab       Date:  2014-02-21       Impact factor: 4.797

10.  Population pharmacokinetic modeling and dosing simulations of nitrogen-scavenging compounds: disposition of glycerol phenylbutyrate and sodium phenylbutyrate in adult and pediatric patients with urea cycle disorders.

Authors:  Jon P R Monteleone; M Mokhtarani; G A Diaz; W Rhead; U Lichter-Konecki; S A Berry; C Lemons; K Dickinson; D Coakley; B Lee; B F Scharschmidt
Journal:  J Clin Pharmacol       Date:  2013-06-15       Impact factor: 3.126

View more
  1 in total

1.  Switching to Glycerol Phenylbutyrate in 48 Patients with Urea Cycle Disorders: Clinical Experience in Spain.

Authors:  Elena Martín-Hernández; Pilar Quijada-Fraile; Patricia Correcher; Silvia Meavilla; Paula Sánchez-Pintos; Javier de Las Heras Montero; Javier Blasco-Alonso; Lucy Dougherty; Ana Marquez; Luis Peña-Quintana; Elvira Cañedo; María Concepción García-Jimenez; Pedro Juan Moreno Lozano; Mercedes Murray Hurtado; María Camprodon Gómez; Delia Barrio-Carreras; Mariela de Los Santos; Mireia Del Toro; María L Couce; Isidro Vitoria Miñana; Montserrat Morales Conejo; Marcello Bellusci
Journal:  J Clin Med       Date:  2022-08-28       Impact factor: 4.964

  1 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.