New developments in the treatment of hyperammonemia: emerging use of carglumic acid

References

• LeonardJVWard PlattMPMorrisAAHypothesis: proposals for the management of a neonate at risk of hyperammonaemia due to a urea cycle disorderEur J Pediatr2008167330530917436013
   PubMed Web of Science ®Google Scholar
• O’ConnorJEJordáAGrisolíaSAcute and chronic effects of carbamyl glutamate on blood urea and ammoniaEur J Pediatr198514331961973987713
   PubMed Web of Science ®Google Scholar
• Ah MewNPayanIDaikhinYEffects of a single dose of N-carbamylglutamate on the rate of ureagenesisMol Gen Metab2009984325330
   PubMed Web of Science ®Google Scholar
• KimSPaikWKCohenPPAmmonia intoxication in rats: protection by L-carbamylglutamate plus L-arginineProc Natl Acad Sci U S A19726912353035334509311
   PubMed Web of Science ®Google Scholar
• RegleroARivasJMendelsonJWallaceRGrisoliaSDeacylation and transacetylation of acetyl glutamate and acetyl ornithine in rat liverFEBS Lett19778111317902767
   PubMed Web of Science ®Google Scholar
• TuchmanMLeeBLichter-KoneckiUCross-sectional multicenter study of patients with urea cycle disorders in the United StatesMol Genet Metab200894439740218562231
   PubMed Web of Science ®Google Scholar
• BachmannCKrähenbühlSColomboJPSchubigerGJaggiKHTönzON acetylglutamate synthetase deficiency: a disorder of ammonia detoxicationN Engl J Med198130495437453791
   PubMed Web of Science ®Google Scholar
• HaberleJSchmidtEPauliSMutation analysis in patients with N acetylglutamate synthase deficiencyHum Mutat200321659359712754705
   PubMed Web of Science ®Google Scholar
• CaldovicLMorizonoHPanglaoMGLate onset N-acetylglutamate synthase deficiency caused by hypomorphic allelesHum Mutat200525329329815714518
   PubMed Web of Science ®Google Scholar
• CaldovicLMorizonoHTuchmanMMutations and polymorphisms in the human N-acetylglutamate synthase (NAGS) geneHum Mutat200728875475917421020
   PubMed Web of Science ®Google Scholar
• CaldovicLAh MewNShiDMorizonoHYudkoffMTuchmanMN-acetylglutamate synthase: structure, function and defectsMol Genet Metab2010100 Suppl 1S13S1920303810
   PubMed Web of Science ®Google Scholar
• GesslerPBuchalPSchwenkHUWermuthBFavourable long-term outcome after immediate treatment of neonatal hyperammonemia due to N-acetylglutamate synthase deficiencyEur J Pediatr2010169219719919533169
   PubMed Web of Science ®Google Scholar
• GuffonNVianey-SabanCBourgeoisJRabierDColomboJPGuibaudPA new neonatal case of N-acetylglutamate synthase deficiency treated by carbamylglutamateJ Inherit Metab Dis199518161657623444
   PubMed Web of Science ®Google Scholar
• HinnieJColomboJPWermuthBDryburghFJN-Acetylglutamate synthetase deficiency responding to carbamylglutamateJ Inherit Metab Dis19972068398409427158
   PubMed Web of Science ®Google Scholar
• MorrisAARichmondSWOddieSJPourfarzamMWorthingtonVLeonardJVN-acetylglutamate synthetase deficiency: favourable experience with carbamylglutamateJ Inherit Metab Dis19982188678689870213
   PubMed Web of Science ®Google Scholar
• PleckoBErwaWWermuthBPartial N-acetylglutamate synthetase deficiency in a 13-year-old girl: diagnosis and response to treatment with N-carbamylglutamateEur J Pediatr1998157129969989877039
   PubMed Web of Science ®Google Scholar
• CaldovicLMorizonoHDaikhinYRestoration of ureagenesis in N-acetylglutamate synthase deficiency by N-carbamylglutamateJ Pediatr2004145455255415480384
   PubMed Web of Science ®Google Scholar
• TuchmanMCaldovicLDaikhinYN-carbamylglutamate markedly enhances ureagenesis in N-acetylglutamate deficiency and propionic acidemia as measured by isotopic incorporation and blood biomarkersPediatr Res200864221321718414145
   PubMed Web of Science ®Google Scholar
• NordenströmAHalldinMHallbergBAlmJA trial with N- carbamylglutamate may not detect all patients with NAGS deficiency and neonatal onsetJ Inherit Metab Dis200730340017510757
   PubMedGoogle Scholar
• KuchlerGRabierDPoggi-TravertFTherapeutic use of carbamylglutamate in the case of carbamoyl-phosphate synthetase deficiencyJ Inherit Metab Dis19961922202228739970
   PubMed Web of Science ®Google Scholar
• CoudeFXSweetmanLNyhanWInhibition by propionyl-coenzyme A of N-acetylglutamate synthetase in rat liver mitochondria. A possible explanation for hyperammonemia in propionic and methylmalonic acidemiaJ Clin Invest197964615441551500823
   PubMed Web of Science ®Google Scholar
• GebhardtBDittrichSParbelSVlahoSMatsikaOBohlesHN-carbamylglutamate protects patients with decompensated propionic aciduria from hyperammonaemiaJ Inherit Metab Dis200528224124415877213
   PubMed Web of Science ®Google Scholar
• JonesSReedCAVijaySWalterJHMorrisAAN-Carbamylglutamate for neonatal hyperammonaemia in propionic acidaemiaJ Inherit Metab Dis2008221 [Epub ahead of print]
   Web of Science ®Google Scholar
• Fernández de MiguelSGimeno Díaz de AtauriATorres PeralRFernández CarriónFSerrano AyestaránON-carbamyl glutamate treatment in hyperammoniemia decompensated propionic acidaemiaAn Pediatr (Barc)200971657958019850540
   PubMed Web of Science ®Google Scholar
• SchwahnBCPieterseLBissetWMGallowayPGRobinsonPHBiochemical efficacy of N-carbamylglutamate in neonatal severe hyperammonaemia due to propionic acidaemiaEur J Pediatr2010169113313419680687
   PubMed Web of Science ®Google Scholar
• FilippiLGozziniEFioriniPMalvagiaSla MarcaGDonatiMAN-carbamylglutamate in emergency management of hyperammonemia in neonatal acute onset propionic and methylmalonic aciduriaNeonatology201097328629019887858
   PubMed Web of Science ®Google Scholar
• SoyucenEDemirciEAydinAOutpatient treatment of propionic acidemia-associated hyperammonemia with N-carbamoyl-L-glutamate in an infantClin Ther201032471071320435240
   PubMed Web of Science ®Google Scholar
• Ah MewNMcCarterRDaikhinYNissimIYudkoffMTuchmanMN-carbamylglutamate augments ureagenesis and reduces ammonia and glutamine in propionic acidemiaPediatrics20101261e208e21420566609
   PubMed Web of Science ®Google Scholar
• AcquavivaCBenoistJFPereiraSMolecular basis of methylmalonyl-CoA mutase apoenzyme defect in 40 European patients affected by mut(o) and mut- forms of methylmalonic acidemia: identification of 29 novel mutations in the MUT geneHum Mutat200525216717615643616
   PubMed Web of Science ®Google Scholar
• FowlerBLeonardJVBaumgartnerMRCauses of and diagnostic approach to methylmalonic aciduriasJ Inherit Metab Dis200831335036018563633
   PubMed Web of Science ®Google Scholar
• ManoliIVendittiCPPagonRABirdTCDolanCRStephensKMethylmalonic acidemiaGeneReviewsSeattle (WA)University of Washington1993–2005
   Google Scholar
• GebhardtBVlahoSFischerDSewellABöhlesHN-carbamylglutamate enhances ammonia detoxification in a patient with decompensated methylmalonic aciduriaMol Genet Metab200379430330412948747
   PubMed Web of Science ®Google Scholar
• LevratVForestIFouilhouxAAcquavivaCVianey-SabanCGuffonNCarglumic acid: an additional therapy in the treatment of organic acidurias with hyperammonemia?Orphanet J Rare Dis20083218234091
   PubMed Web of Science ®Google Scholar
• DancisJHutzlerJLevitzMMetabolism of the white blood cells in maple-syrup-urine diseaseBiochim Biophys Acta19604334234313719556
   PubMed Web of Science ®Google Scholar
• ChuangDTMaple syrup urine disease: it has come a long wayJ Pediatr19981323 Pt 2S17S239546032
   PubMed Web of Science ®Google Scholar
• ChuangDTShihVEScriverCRBeaudetALSlyWSValleDDisorders of branched-chain amino acid and keto acid metabolismThe Metabolic and Molecular Basis of Inherited Disease7th edNew YorkMcGraw-Hill199512391277
   Google Scholar
• CromeLDuttonGRossCFMaple syrup urine diseaseJ Pathol Bacteriol19618137938413696537
   PubMedGoogle Scholar
• MackenzieDYWoolfLIMaple syrup urine disease; an inborn error of the metabolism of valine, leucine, and isoleucine associated with gross mental deficiencyBr Med J195915114909113608087
   PubMed Web of Science ®Google Scholar
• Kalkan UcarSCokerMHabifSThe first use of N-carbamylglutamate in a patient with decompensated maple syrup urine diseaseMetab Brain Dis200924340941419688253
   PubMed Web of Science ®Google Scholar
• LottITEricksonAMLevyHLDietary treatment of an infant with isovaleric acidemiaPediatrics19724946166185013425
   PubMed Web of Science ®Google Scholar
• MendiolaJJrRobothamJLLiehrJGWilliamsJCNeonatal lethargy due to isovaleric acidemia and hyperammonemiaTex Med198480152546695347
   PubMedGoogle Scholar
• TanakaKBuddMAEfronMLIsselbacherKJIsovaleric acidemia: a new genetic defect of leucine metabolismProc Natl Acad Sci U S A19665612363425229850
   PubMed Web of Science ®Google Scholar
• TanakaKIsselbacherKJThe isolation and identif ication of N- isovalerylglycine from urine of patients with isovaleric acidemiaJ Biol Chem196724212296629726027258
   PubMed Web of Science ®Google Scholar
• VockleyJRoganPKAndersonBDExon skipping in IVD RNA processing in isovaleric acidemia caused by point mutations in the coding region of the IVD geneAm J Hum Genet200066235636710677295
   PubMed Web of Science ®Google Scholar
• LeeYWLeeDHVockleyJKimNDLeeYKKiCSDifferent spectrum of mutations of isovaleryl-CoA dehydrogenase (IVD) gene in Korean patients with isovaleric acidemiaMol Genet Metab2007921–2717717576084
   PubMed Web of Science ®Google Scholar
• VockleyJEnsenauerRIsovaleric acidemia: new aspects of genetic and phenotypic heterogeneityAm J Med Genet C Semin Med Genet2006142C29510316602101
   PubMed Web of Science ®Google Scholar
• CoudeFXGrimberGParvyPRabierDRole of N-acetylglutamate and acetyl-CoA in the inhibition of ureagenesis by isovaleric acid in isolated rat hepatocytesBiochim Biophys Acta1983761113166639961
   PubMed Web of Science ®Google Scholar
• KasapkaraCSEzguFSTumerLBiberogluGOkurIHasanogluAN-carbamylglutamate treatment for acute neonatal hyperammonaemia in isovaleric acidaemiaJ Inherit Metab Dis201033 Suppl 1S48
   Google Scholar
• ZammarchiEFilippiLNovembreEDonatiMABiochemical evaluation of a patient with a familial form of leucine-sensitive hypoglycemia and concomitant hyperammonemiaMetabolism19964589579608769351
   PubMed Web of Science ®Google Scholar
• StanleyCALieuYKHsuBYHyperinsulinism and hyperammonemia in infants with regulatory mutations of the glutamate dehydrogenase geneN Engl J Med199833819135213579571255
   PubMed Web of Science ®Google Scholar
• MacMullenCFangJHsuBYHyperinsulinism/hyperammonemia syndrome in children with regulatory mutations in the inhibitory guanosine triphosphate-binding domain of glutamate dehydrogenaseJ Clin Endocrinol Metab20018641782178711297618
   PubMed Web of Science ®Google Scholar
• FahienLAMacDonaldMJKmiotekEHMertzRJFahienCMRegulation of insulin release by factors that also modify glutamate dehydrogenaseJ Biol Chem19882632713610136143047128
   PubMed Web of Science ®Google Scholar
• PariniRColomboFLombardiAMMenniFBeccariaLHyperinsulinism plus hyperammonemiaJ Pediatr199813368008019842050
   PubMed Web of Science ®Google Scholar
• HsuBYKellyAThorntonPSGreenbergCRDillingLAStanleyCAProtein-sensitive and fasting hypoglycemia in children with the hyperinsulinism/hyperammonemia syndromeJ Pediatr2001138338338911241047
   PubMed Web of Science ®Google Scholar
• StanleyCAHyperinsulinism/hyperammonemia syndrome: insights into the regulatory role of glutamate dehydrogenase in ammonia metabolismMol Genet Metab200481 Suppl 1S45S5115050973
   PubMed Web of Science ®Google Scholar
• HuijmansJGDuranMde KlerkJBRoversMJScholteHRFunctional hyperactivity of hepatic glutamate dehydrogenase as a cause of the hyperinsulinism/hyperammonemia syndrome: effect of treatmentPediatrics2000106359660010969108
   PubMed Web of Science ®Google Scholar
• PalladinoAAStanleyCAThe hyperinsulinism/hyperammonemia syndromeRev Endocr Metab Disord2010109 [Epub ahead of print]
   Web of Science ®Google Scholar
• De LonlayPBenelliCFouqueFHyperinsulinism and hyperammonemia syndrome: report of twelve unrelated patientsPediatr Res200150335335711518822
   PubMed Web of Science ®Google Scholar
• Segura-BrunaNRodriguez-CampelloAPuenteVRoquerJValproate- induced hyperammonemic encephalopathyActa Neurol Scand200611411716774619
   PubMed Web of Science ®Google Scholar
• Pedron GinerCLopez MarinLQuijada FrailePValproate induced hyperammonaemic encephalopathy syndrome. Treatment with carglumic acidJ Inherit Metab Dis200831 Suppl 1S89
   Google Scholar
• ErgonProtocolo Hispano-Luso de diagnostico y tratamiento de las hiperamoniemias en pacientes neonatos y de màs de 30 dìas de vida2nd edMajadahonda, Madrid2009
   Google Scholar
• SchubigerGBachmannCBarbenPColomboJPTönzOSchüpbachDN-acetylglutamate synthetase deficiency: diagnosis, management and follow-up of a rare disorder of ammonia detoxicationEur J Pediatr199115053533562044610
   PubMed Web of Science ®Google Scholar