Glycerol phenylbutyrate for the chronic management of urea cycle disorders

References

• Brusilow SW, Horwich AL. Urea cycle enzymes. The online metabolic and molecuar bases of inherited disease. Available from: www.ommbid.com [Last accessed January 2014]
   Google Scholar
• Summar ML, Dobbelaere D, Brusilow S, Lee B. Diagnosis, symptoms, frequency and mortality of 260 patients with urea cycle disorders from a 21-year, multicentre study of acute hyperammonaemic episodes. Acta Paediatr 2008;97:1420-5
   PubMed Web of Science ®Google Scholar
• Brusilow SW, Maestri NE. Urea cycle disorders: diagnosis, pathophysiology, and therapy. Adv Pediatr 1996;43:127-70
   PubMedGoogle Scholar
• Uchino T, Endo F, Matsuda I. Neurodevelopmental outcome of long-term therapy of urea cycle disorders in Japan. J Inherit Metab Dis 1998;21(Suppl 1):151-9
   Google Scholar
• Haberle J, Boddaert N, Burlina A, et al. Suggested guidelines for the diagnosis and management of urea cycle disorders. Orphanet J Rare Dis 2012;7:32
   PubMed Web of Science ®Google Scholar
• Kim IK, Niemi AK, Krueger C, et al. Liver transplantation for urea cycle disorders in pediatric patients: a single-center experience. Pediatr Transplant 2013;17:158-67
   Google Scholar
• Maestri NE, Clissold D, Brusilow SW. Neonatal onset ornithine transcarbamylase deficiency: a retrospective analysis. J Pediatr 1999;134:268-72
   PubMed Web of Science ®Google Scholar
• Tuchman M, Lee B, Lichter-Konecki U, et al. Cross-sectional multicenter study of patients with urea cycle disorders in the United States. Mol Genet Metab 2008;94:397-402
   PubMed Web of Science ®Google Scholar
• Krivitzky L, Babikian T, Lee HS, et al. Intellectual, adaptive, and behavioral functioning in children with urea cycle disorders. Pediatr Res 2009;66:96-101
   PubMed Web of Science ®Google Scholar
• Gyato K, Wray J, Huang ZJ, et al. Metabolic and neuropsychological phenotype in women heterozygous for ornithine transcarbamylase deficiency. Ann Neurol 2004;55:80-6
   PubMed Web of Science ®Google Scholar
• Gropman AL, Fricke ST, Seltzer RR, et al. 1H MRS identifies symptomatic and asymptomatic subjects with partial ornithine transcarbamylase deficiency. Mol Genet Metab 2008;95:21-30
   PubMed Web of Science ®Google Scholar
• Brusilow SW, Batshaw ML. Arginine therapy of argininosuccinase deficiency. Lancet 1979;1:124-7
   PubMed Web of Science ®Google Scholar
• Brusilow S, Tinker J, Batshaw ML. Amino acid acylation: a mechanism of nitrogen excretion in inborn errors of urea synthesis. Science 1980;207:659-61
   PubMed Web of Science ®Google Scholar
• Batshaw ML, Brusilow S, Waber L, et al. Treatment of inborn errors of urea synthesis: activation of alternative pathways of waste nitrogen synthesis and excretion. N Engl J Med 1982;306:1387-92
   PubMed Web of Science ®Google Scholar
• Brusilow SW. Phenylacetylglutamine may replace urea as a vehicle for waste nitrogen excretion. Pediatr Res 1991;29:147-50
   PubMed Web of Science ®Google Scholar
• Lee B, Rhead W, Diaz GA, et al. Phase 2 comparison of a novel ammonia scavenging agent with sodium phenylbutyrate in patients with urea cycle disorders: safety, pharmacokinetics and ammonia control. Mol Genet Metab 2010;100:221-8
   PubMed Web of Science ®Google Scholar
• McGuire BM, Zupanets IA, Lowe ME, et al. Pharmacology and safety of glycerol phenylbutyrate in healthy adults and adults with cirrhosis. Hepatology 2010;51:2077-85
   PubMed Web of Science ®Google Scholar
• Rockey DC, Vierling JM, Mantry P, et al. Randomized, double-blind, controlled study of glycerol phenylbutyrate in hepatic encephalopathy. Hepatology 2014;59(3):1073-83
   PubMed Web of Science ®Google Scholar
• Enns GM, Berry SA, Berry GT, et al. Survival after treatment with phenylacetate and benzoate for urea-cycle disorders. N Engl J Med 2007;356:2282-92
   PubMed Web of Science ®Google Scholar
• Kasumov T, Brunengraber LL, Comte B, et al. New secondary metabolites of phenylbutyrate in humans and rats. Drug Metab Dispos 2004;32:10-19
   PubMed Web of Science ®Google Scholar
• Guffon N, Kibleur Y, Copalu W, et al. Developing a new formulation of sodium phenylbutyrate. Arch Dis Child 2012;97:1081-5
   PubMed Web of Science ®Google Scholar
• George J, Majeed W, Mackenzie IS, et al. Association between cardiovascular events and sodium-containing effervescent, dispersible, and soluble drugs: nested case-control study. BMJ 2013;347:f6954
   PubMed Web of Science ®Google Scholar
• Leung W, Wong F. Medical management of ascites. Expert Opin Pharmacother 2011;12:1269-83
   Web of Science ®Google Scholar
• Smith W, Diaz GA, Lichter-Konecki U, et al. Ammonia control in children ages 2 months through 5 years with urea cycle disorders: comparison of sodium phenylbutyrate and glycerol phenylbutyrate. J Pediatr 2013;162:1228-34. 1234 e1221
   PubMed Web of Science ®Google Scholar
• Monteleone JP, Mokhtarani M, Diaz GA, et al. 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. J Clin Pharmacol 2013;53:699-710
   PubMed Web of Science ®Google Scholar
• Kormanik K, Kang H, Cuebas D, et al. Evidence for involvement of medium chain acyl-CoA dehydrogenase in the metabolism of phenylbutyrate. Mol Genet Metab 2012;107:684-9
   Google Scholar
• Moldave K, Meister A. Synthesis of phenylacetylglutamine by human tissue. J Biol Chem 1957;229:463-76
   Google Scholar
• Lichter-Konecki U, Diaz GA, Merritt JL 2nd, et al. Ammonia control in children with urea cycle disorders (UCDs); phase 2 comparison of sodium phenylbutyrate and glycerol phenylbutyrate. Mol Genet Metab 2011;103:323-9
   PubMed Web of Science ®Google Scholar
• Mokhtarani M, Diaz GA, Rhead W, et al. Urinary phenylacetylglutamine as dosing biomarker for patients with urea cycle disorders. Mol Genet Metab 2012;107:308-14
   PubMed Web of Science ®Google Scholar
• Mokhtarani M, Diaz GA, Rhead W, et al. Elevated phenylacetic acid levels do not correlate with adverse events in patients with urea cycle disorders or hepatic encephalopathy and can be predicted based on the plasma PAA to PAGN ratio. Mol Genet Metab 2013;110:446-53
   PubMed Web of Science ®Google Scholar
• Diaz GA, Krivitzky LS, Mokhtarani M, et al. Ammonia control and neurocognitive outcome among urea cycle disorder patients treated with glycerol phenylbutyrate. Hepatology 2013;57:2171-9
   PubMed Web of Science ®Google Scholar
• A study of glyceryl Tri-(4-phenylbutyrate) (GT4P). Available from: http://clinicaltrials.gov/show/NCT00977600
   Google Scholar
• A study of glyceryl Tri-(4-phenylbutyrate) administered orally as a single dose, and twice daily for seven consecutive days to subjects with hepatic impairment with cirrhosis and to a control group. Available from: http://clinicaltrials.gov/show/NCT00986895
   Google Scholar
• Dose-escalation safety study of HPN-100 to treat urea cycle disorders. Available from: http://clinicaltrials.gov/show/NCT00551200
   Google Scholar
• Study of the safety, pharmacokinetics and efficacy of HPN-100, in pediatric subjects with urea cycle disorders (UCDs). Available from: http://clinicaltrials.gov/show/NCT01347073
   Google Scholar
• Study of the safety of HPN-100 for the long-term treatment of urea cycle disorders (treat UCD). Available from: http://clinicaltrials.gov/show/NCT00947297
   Google Scholar
• Berry SA, Lichter-Konecki U, Diaz GA, et al. Glycerol phenylbutyrate treatment in children with urea cycle disorders: pooled analysis of short and long-term ammonia control and outcomes. Mol Genet Metab 2014;112:17-24
   PubMed Web of Science ®Google Scholar
• Walker V. Ammonia toxicity and its prevention in inherited defects of the urea cycle. Diabetes Obes Metab 2009;11:823-35
   PubMed Web of Science ®Google Scholar
• Thibault A, Cooper MR, Figg WD, et al. A phase I and pharmacokinetic study of intravenous phenylacetate in patients with cancer. Cancer Res 1994;54:1690-4
   PubMed Web of Science ®Google Scholar
• Thibault A, Samid D, Cooper MR, et al. Phase I study of phenylacetate administered twice daily to patients with cancer. Cancer 1995;75:2932-8
   PubMed Web of Science ®Google Scholar
• Darmaun D, Welch S, Rini A, et al. Phenylbutyrate-induced glutamine depletion in humans: effect on leucine metabolism. Am J Physiol 1998;274:E801-7
   Google Scholar
• Le Bacquer O, Mauras N, Welch S, et al. Acute depletion of plasma glutamine increases leucine oxidation in prednisone-treated humans. Clin Nutr 2007;26:231-8
   Google Scholar
• Scaglia F, Carter S, O’Brien WE, Lee B. Effect of alternative pathway therapy on branched chain amino acid metabolism in urea cycle disorder patients. Mol Genet Metab 2004;81(Suppl 1):S79-85
   PubMed Web of Science ®Google Scholar
• Brunetti-Pierri N, Lanpher B, Erez A, et al. Phenylbutyrate therapy for maple syrup urine disease. Hum Mol Genet 2011;20:631-40
   PubMed Web of Science ®Google Scholar
• Marini JC, Lanpher BC, Scaglia F, et al. Phenylbutyrate improves nitrogen disposal via an alternative pathway without eliciting an increase in protein breakdown and catabolism in control and ornithine transcarbamylase-deficient patients. Am J Clin Nutr 2011;93:1248-54
   PubMed Web of Science ®Google Scholar
• Monneret C. Histone deacetylase inhibitors. Eur J Med Chem 2005;40:1-13
   PubMed Web of Science ®Google Scholar
• Iannitti T, Palmieri B. Clinical and experimental applications of sodium phenylbutyrate. Drugs R D 2011;11:227-49
   PubMedGoogle Scholar
• Witzig TE, Timm M, Stenson M, et al. Induction of apoptosis in malignant B cells by phenylbutyrate or phenylacetate in combination with chemotherapeutic agents. Clin Cancer Res 2000;6:681-92
   PubMed Web of Science ®Google Scholar
• Gore SD, Samid D, Weng LJ. Impact of the putative differentiating agents sodium phenylbutyrate and sodium phenylacetate on proliferation, differentiation, and apoptosis of primary neoplastic myeloid cells. Clin Cancer Res 1997;3:1755-62
   PubMed Web of Science ®Google Scholar
• Franco OE, Onishi T, Umeda Y, et al. Phenylacetate inhibits growth and modulates cell cycle gene expression in renal cancer cell lines. Anticancer Res 2003;23:1637-42
   PubMed Web of Science ®Google Scholar
• Shibahara T, Onishi T, Franco OE, et al. Down-regulation of Skp2 is correlated with p27-associated cell cycle arrest induced by phenylacetate in human prostate cancer cells. Anticancer Res 2005;25:1881-8
   Google Scholar
• Sawatsri S, Samid D, Malkapuram S, Sidell N. Inhibition of estrogen-dependent breast cell responses with phenylacetate. Int J Cancer 2001;93:687-92
   Google Scholar
• Ferriero R, Manco G, Lamantea E, et al. Phenylbutyrate therapy for pyruvate dehydrogenase complex deficiency and lactic acidosis. Sci Transl Med 2013;5:175ra131
   Google Scholar
• Kern RM, Yang Z, Kim PS, et al. Arginase induction by sodium phenylbutyrate in mouse tissues and human cell lines. Mol Genet Metab 2007;90:37-41
   Google Scholar