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N-carbamylglutamate treatment for acute neonatal hyperammonemia in isovaleric acidemia

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Abstract

Hyperammonemia occurs mainly in patients with branched-chain organic acidemias such as propionic, methylmalonic, and isovaleric acidemias. Its pathophysiological process is mainly via the competitive inhibition of N-acetylglutamate synthetase. Oral carglumic acid (N-carbamylglutamate) administration can correct hyperammonemia in neonates with propionic and methylmalonic acidemias, thus avoiding dialysis therapy. Isovaleric acidemia is an autosomal recessive disease of leucine metabolism due to deficiency of isovaleryl-CoA dehydrogenase. For the first time, we report a neonate with isovaleric acidemia, whose plasma ammonia concentration dropped dramatically after one oral load of carglumic acid. This experience suggests that carglumic acid could be considered for acute hyperammonemia resulting from isovaleric acidemia. However, trials with more patients are needed.

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References

  1. Castorina M, Rigante D, Antuzzi D, Sciascia Cannizzaro G, Ricci R (2008) Different outcome in isovaleric acidemia might be related to unsatisfactory diet compliance. Scand J Gastroenterol 43(6):767–768

    Article  PubMed  Google Scholar 

  2. Ensenauer R, Vockley J, Willard JM et al (2004) A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screening. Am J Hum Genet 75(6):1136–1142

    Article  PubMed  CAS  Google Scholar 

  3. Filippi L, Gozzini E, Fiorini P, Malvagia S, la Marca G, Donati MA (2010) N-carbamylglutamate in emergency management of hyperammonemia in neonatal acute onset propionic and methylmalonic aciduria. Neonatology 97(3):286–290

    Article  PubMed  CAS  Google Scholar 

  4. Gebhardt B, Dittrich S, Parbel S, Vlaho S, Matsika O, Bohles H (2005) N-carbamylglutamate protects patients with decompensated propionic aciduria from hyperammonaemia. J Inherit Metab Dis 28(2):241–244

    Article  PubMed  CAS  Google Scholar 

  5. Jones S, Reed CA, Vijay S, Walter JH, Morris AA (2008) N-Carbamylglutamate for neonatal hyperammonaemia in propionic acidaemia. J Inherit Metab Dis (in press)

  6. Schwahn BC, Pieterse L, Bisset WM, Galloway PG, Robinson PH (2010) Biochemical efficacy of N-carbamylglutamate in neonatal severe hyperammonaemia due to propionic acidaemia. Eur J Pediatr 169(1):133–134

    Article  PubMed  Google Scholar 

  7. Shigematsu Y, Hata I, Tajima G (2010) Useful second-tier tests in expanded newborn screening of isovaleric acidemia and methylmalonic aciduria. J Inherit Metab Dis 33(Suppl 2):S283–288

    Article  PubMed  Google Scholar 

  8. Shigematsu Y, Hata I, Tanaka Y (2007) Stable-isotope dilution measurement of isovalerylglycine by tandem mass spectrometry in newborn screening for isovaleric acidemia. Clin Chim Acta 386(1–2):82–86

    Article  PubMed  CAS  Google Scholar 

  9. Sogut A, Acun C, Aydin K, Tomac N, Demirel F, Aktuoglu C (2004) Isovaleric acidaemia: cranial CT and MRI findings. Pediatr Radiol 34(2):160–162

    Article  PubMed  Google Scholar 

  10. Vockley J, Ensenauer R (2006) Isovaleric acidemia: new aspects of genetic and phenotypic heterogeneity. Am J Med Genet C Semin Med Genet 142C(2):95–103

    Article  PubMed  CAS  Google Scholar 

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Authors and Affiliations

  1. Department of Pediatric Nutrition and Metabolism, Gazi University Medical School, Besevler, Ankara, 06500, Turkey

    Cigdem Seher Kasapkara, Fatih Suheyl Ezgu, Ilyas Okur, Leyla Tumer, Gursel Biberoglu & Alev Hasanoglu

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  1. Cigdem Seher Kasapkara
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  2. Fatih Suheyl Ezgu
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  3. Ilyas Okur
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  4. Leyla Tumer
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  5. Gursel Biberoglu
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  6. Alev Hasanoglu
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Correspondence to Cigdem Seher Kasapkara.

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Kasapkara, C.S., Ezgu, F.S., Okur, I. et al. N-carbamylglutamate treatment for acute neonatal hyperammonemia in isovaleric acidemia. Eur J Pediatr 170, 799–801 (2011). https://doi.org/10.1007/s00431-010-1362-9

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  • DOI: https://doi.org/10.1007/s00431-010-1362-9

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