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Urea cycle disorders clinical, laboratory and genetic features: Single center experience

Year 2022, Volume: 13 Issue: 45, 74 - 79, 07.04.2022
https://doi.org/10.17944/mkutfd.998813

Abstract

Objective: Urea cycle disorders (UDD) are congenital metabolic disorders that occur as a result of the accumulation of ammonia, which is toxic to the body, in the blood. In our study, the clinical, laboratory, genetic and radiological features of our UDD patients were evaluated.
Method: In our study, the clinical, laboratory, genetic and radiological features of 12 patients with UDD were evaluated retrospectively.
Results: Four (33%) patients presented with acute metabolic crisis in the neonatal period. One of the patients (citrullinemia type I) was diagnosed as intrauterine and his treatment was started as soon as he was born. The age at presentation of the patients ranged from 0 days to 12 years. The most common complaint in 4 patients with neonatal onset was sepsis-like clinical presentation, vomiting and coma occurring within the first 6 days after birth. Coma, mental retardation, gait delay, spasticity (argininemia), growth retardation (LPI), avoidance of protein foods (LPI, OTC deficiency) were predominant in patients diagnosed outside the neonatal period. The age at presentation of late-onset patients ranged from 2 years to 12 years. Only one of the seven late-onset patients showed normal growth and mental development.
Conclusion: UDD can be encountered not only in the neonatal period, but also in every period of life. In the presence of clinical suspicion, diagnostic tests should be planned quickly. Early diagnosis significantly affects mortality and morbidity.

References

  • Brusilow S, Horwich A. Urea cycle enzymes. In The metabolic & molecular bases of inherited disease. 8th edition. Edited by Scriver C, Beaudet A, Sly W, Valle D. New York: McGraw-Hill; 2001:1909–63.
  • Noguchi A, Nakamura K, Murayama K, Yamamoto S, Komatsu H, Kizu R, et al. (2016). Clinical and genetic features of lysinuric protein intolerance in Japan. Pediatrics International, 58(10), 979-983. DOI: https://doi.org/10.1111/ped.12946
  • Häberle J, Boddaert N, Burlina A, Chakrapani A, Dixon M, Huemer M et al. Suggested guidelines for the diagnosis and management of urea cycle disorders. Orphanet J Rare Dis 2012;7:32. https://doi.org/10.1002/jimd.12100
  • Häberle J. Clinical practice: the management of hyperammonemia. Eur J Pediatr 2011, 170:21–34. https://doi.org/10.1007/s00431-010-1369-2
  • Bachmann C. Outcome and survival of 88 patients with urea cycle disorders: a retrospective evaluation. Eur J Pediatr 2003 162 :410–16. https://doi.org/10.1007/s00431-003-1188-9
  • Saritaş Nakip Ö, Yıldız Y, Tokatlı A. Retrospective evaluation of 85 patients with urea cycle disorders: one center experience, three new mutations. J Pediatr Endocrinol Metab 2020;33:721-728. https://doi.org/10.1515/jpem-2019-0413
  • Whitington PF, Alonso EM, Boyle JT, et al. Liver transplantation for the treatment of urea cycle disorders. J Inherit Metab Dis 1998, 21[Suppl 1]:112–18. https://doi.org/10.1023/A:1005317909946
  • Nassogne MC, Heron B, Touati G, et al. Urea cycle defects: management and outcome. J Inherit Metab Dis 2005, 28:407–14. https://doi: 10.1007/s10545-005-0303
  • Carvalho, D. R., Brum, J. M., Speck-Martins, C. E., Ventura, F. D., Navarro, M. M., Coelho, K. E., ... & Pratesi, R. (2012). Clinical features and neurologic progression of hyperargininemia. Pediatric neurology, 46(6), 369-374. https://doi.org/10.1016/j.pediatrneurol.2012.03.016
  • Yu, D., Lu, G., Mowshica, R., Cheng, Y., & Zhao, F. (2019). Clinical and cranial MRI features of female patients with ornithine transcarbamylase deficiency: Two case reports. Medicine, 98(33) https://doi.org/10.1097/MD.0000000000016827
  • King, L. S., Singh, R. H., Rhead, W. J., Smith, W., Lee, B., & Summar, M. L. (2005). Genetic counseling issues in urea cycle disorders. Critical care clinics, 21(4), S37-S44. https://doi.org/10.1016/j.ccc.2005.08.001

Üre döngüsü bozuklukları klinik, laboratuvar ve genetik özellikleri: Tek merkez deneyimi

Year 2022, Volume: 13 Issue: 45, 74 - 79, 07.04.2022
https://doi.org/10.17944/mkutfd.998813

Abstract

Amaç: Üre döngüsü bozuklukları (ÜDB), vücut için toksik olan amonyağın kanda birikimi sonucu ortaya çıkan doğumsal metabolizma bozukluklarıdır. Çalışmamızda ÜDB hastalarımızın klinik, laboratuvar, genetik ve radyolojik özellikleri değerlendirilmiştir.
Yöntem: Çalışmamızda 12 ÜDB tanılı hastanın klinik, laboratuvar, genetik ve radyolojik özellikleri retrospektif olarak değerlendirildi.
Bulgular: Dört (%33) hasta yenidoğan döneminde akut metabolik kriz ile başvurmuştu. Hastalardan biri (sitrullinemi tip I) intrauterin tanı almıştı ve doğar doğmaz tedavisi başlanmıştı. Hastaların başvuru yaşları 0 gün ile 12 yaş arasında değişmekteydi. Yenidoğan başlangıçlı 4 hastadaki en sık şikâyet, doğumdan sonraki ilk 6 gün içinde ortaya çıkan sepsis benzeri klinik, kusma ve koma tablosuydu. Yenidoğan dönemi dışında tanı alan hastalarda ise koma, zekâ geriliği, yürüme gecikmesi, spastisite (arjininemi), büyüme geriliği (LPİ), proteinli gıdalardan kaçınma (LPİ, OTC eksikliği) baskındı. Geç başlangıçlı hastaların başvuru yaşı 2 yaş ile 12 yaş arasında değişmekteydi. Yedi geç başlangıçlı hastadan sadece bir tanesi normal büyüme ve mental gelişim gösterdi.
Sonuç: ÜDB sadece yenidoğan dönemi değil, yaşamın her döneminde karşımıza çıkabilir. Klinik şüphe varlığında tanıya yönelik testler hızlıca planlanmalıdır. Erken tanı mortalite ve morbiditeyi önemli düzeyde etkilemektedir.

References

  • Brusilow S, Horwich A. Urea cycle enzymes. In The metabolic & molecular bases of inherited disease. 8th edition. Edited by Scriver C, Beaudet A, Sly W, Valle D. New York: McGraw-Hill; 2001:1909–63.
  • Noguchi A, Nakamura K, Murayama K, Yamamoto S, Komatsu H, Kizu R, et al. (2016). Clinical and genetic features of lysinuric protein intolerance in Japan. Pediatrics International, 58(10), 979-983. DOI: https://doi.org/10.1111/ped.12946
  • Häberle J, Boddaert N, Burlina A, Chakrapani A, Dixon M, Huemer M et al. Suggested guidelines for the diagnosis and management of urea cycle disorders. Orphanet J Rare Dis 2012;7:32. https://doi.org/10.1002/jimd.12100
  • Häberle J. Clinical practice: the management of hyperammonemia. Eur J Pediatr 2011, 170:21–34. https://doi.org/10.1007/s00431-010-1369-2
  • Bachmann C. Outcome and survival of 88 patients with urea cycle disorders: a retrospective evaluation. Eur J Pediatr 2003 162 :410–16. https://doi.org/10.1007/s00431-003-1188-9
  • Saritaş Nakip Ö, Yıldız Y, Tokatlı A. Retrospective evaluation of 85 patients with urea cycle disorders: one center experience, three new mutations. J Pediatr Endocrinol Metab 2020;33:721-728. https://doi.org/10.1515/jpem-2019-0413
  • Whitington PF, Alonso EM, Boyle JT, et al. Liver transplantation for the treatment of urea cycle disorders. J Inherit Metab Dis 1998, 21[Suppl 1]:112–18. https://doi.org/10.1023/A:1005317909946
  • Nassogne MC, Heron B, Touati G, et al. Urea cycle defects: management and outcome. J Inherit Metab Dis 2005, 28:407–14. https://doi: 10.1007/s10545-005-0303
  • Carvalho, D. R., Brum, J. M., Speck-Martins, C. E., Ventura, F. D., Navarro, M. M., Coelho, K. E., ... & Pratesi, R. (2012). Clinical features and neurologic progression of hyperargininemia. Pediatric neurology, 46(6), 369-374. https://doi.org/10.1016/j.pediatrneurol.2012.03.016
  • Yu, D., Lu, G., Mowshica, R., Cheng, Y., & Zhao, F. (2019). Clinical and cranial MRI features of female patients with ornithine transcarbamylase deficiency: Two case reports. Medicine, 98(33) https://doi.org/10.1097/MD.0000000000016827
  • King, L. S., Singh, R. H., Rhead, W. J., Smith, W., Lee, B., & Summar, M. L. (2005). Genetic counseling issues in urea cycle disorders. Critical care clinics, 21(4), S37-S44. https://doi.org/10.1016/j.ccc.2005.08.001
There are 11 citations in total.

Details

Primary Language Turkish
Subjects Clinical Sciences, Health Care Administration
Journal Section Original Articles
Authors

Sevil Dorum 0000-0001-6947-2573

Cengiz Havalı 0000-0001-6275-0884

Publication Date April 7, 2022
Submission Date September 22, 2021
Acceptance Date February 20, 2022
Published in Issue Year 2022 Volume: 13 Issue: 45

Cite

Vancouver Dorum S, Havalı C. Üre döngüsü bozuklukları klinik, laboratuvar ve genetik özellikleri: Tek merkez deneyimi. mkutfd. 2022;13(45):74-9.