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Russian Journal of Child Neurology

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Citrullinemia in a newborn: a case report

https://doi.org/10.17650/2073-8803-2022-17-3-72-78

Abstract

Inherited metabolic disorders have a specific place among cases of sudden deterioration of the newborn’s condition. Therapies have been developed for some of these disorders. Accurate verification of the diagnosis is extremely important for choosing an optimal treatment strategy. However, treatment is not always successful due to the rapid progression of symptoms. We report a case of citrullinemia diagnosed in a newborn in Vidnoye Perinatal Center.

About the Authors

G. S. Golosnaya
V.F. Snegirev Clinic of Obstetrics and Gynecology, I.M. Sechenov First Moscow State Medical University, Ministry of Health of Russia
Russian Federation

Galina Stanislavovna Golosnaya 

2 Elanskogo St., Moscow 119881



T. N. Belousova
Vidnoye Perinatal Center
Russian Federation

17 Zavodskaya St., Vidnoye 142703



M. Yu. Novikov
Vidnoye Perinatal Center
Russian Federation

17 Zavodskaya St., Vidnoye 142703



N. Yu. Knyazeva
Vidnoye Perinatal Center
Russian Federation

17 Zavodskaya St., Vidnoye 142703



D. Yu. Podkopaev
Vidnoye Perinatal Center
Russian Federation

17 Zavodskaya St., Vidnoye 142703



E. G. Trifonova
Vidnoye Perinatal Center
Russian Federation

17 Zavodskaya St., Vidnoye 142703



A. I. Makulova
G.N. Speranskiy Children’s City Clinical Hospital No. 9, Moscow Healthcare Department
Russian Federation

25 Shmidtovskiy Proezd, Moscow 123317



Ya. Ya. Ginen
Vidnoye Regional Clinical Hospital
Russian Federation

15 Zavodskaya St., Vidnoye 142700



Z. A. Kozheurova
Vidnoye Perinatal Center
Russian Federation

17 Zavodskaya St., Vidnoye 142703



D. A. Kholichev
Vidnoye Perinatal Center
Russian Federation

17 Zavodskaya St., Vidnoye 142703



D. A. Politov
Vidnoye Perinatal Center
Russian Federation

17 Zavodskaya St., Vidnoye 142703



P. V. Baranova
N.P. Bochkov Research Center for Medical Genetics
Russian Federation

1 Moskvorechye St., Moscow 115522



N. A. Ermolenko
N.N. Burdenko Voronezh State Medical University
Russian Federation

10 Studencheskaya St., Voronezh 394036



O. N. Krasnorutskaya
N.N. Burdenko Voronezh State Medical University
Russian Federation

10 Studencheskaya St., Voronezh 394036



E. Ya. Kaledina
N.N. Burdenko Voronezh State Medical University
Russian Federation

10 Studencheskaya St., Voronezh 394036



G. P. Tukabaev
G.N. Speranskiy Children’s City Clinical Hospital No. 9, Moscow Healthcare Department
Russian Federation

25 Shmidtovskiy Proezd, Moscow 123317



A. V. Ogurtsov
V.F. Snegirev Clinic of Obstetrics and Gynecology, I.M. Sechenov First Moscow State Medical University, Ministry of Health of Russia
Russian Federation

2 Elanskogo St., Moscow 119881



K. A. Seleznev
Vidnoye Perinatal Center
Russian Federation

17 Zavodskaya St., Vidnoye 142703



References

1. Ando T., Fuchinoue S., Shiraga H. et al. Living-related liver transplantation for citrullinemia: different features and clinical problems between classical types (CTLN1) and adult-onset type (CTLN2) citrullinemia. Jap J Transpl 2003;38:143–7.

2. Bachmann C. Long-term outcome of patients with urea cycle disorders and the question of neonatal screening. Eur J Pediatr 2003;162(Suppl 1):S29–33.

3. Bachmann C. Outcome and survival of 88 patients with urea cycle disorders: A retrospective evaluation. Eur J Pediatr 2003;162:410–6. DOI: 10.1007/s00431-003-1188-9

4. Brar G., Thomas R., Bawle E. Transient hyperammonemia in preterm infants with hypoxia. Pediatr Res 2004;56:671. DOI: 10.1203/00006450-200410000-00052

5. Brusilow S.W., Horwich A.L. Urea cycle enzymes. In: Metabolic and Molecular Bases of Inherited Disease. 8th edn. McGraw Hill, New York, 2001. Pp. 1909–1963.

6. Fabre A., Baumstarck K., Cano A. et al. Assessment of quality of life of the children and parents affected by inborn errors of metabolism with restricted diet: preliminary results of a crosssectional study. Health Qual Life Outcomes 2013;11:158. DOI: 10.1186/1477-7525-11-158

7. Gropman A.L., Summar M., Leonard J.V. Neurological implications of urea cycle disorders. J Inherit Metab Dis 2007;30:865–79. DOI: 10.1007/s10545-007-0709-5

8. Häberle J., Pauli S., Schmidt E. et al. Mild citrullinemia in Caucasians is an allelic variant of argininosuccinate synthetase deficiency (citrullinemia type 1). Mol Genet Metab 2003;80:302–6.

9. Haeberle 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. DOI: 10.1186/1750-1172-7-32

10. Joseph M., Hageman J.R. Neonatal transport: a 3-day old neonate with hypothermia, respiratory distress, lethargy and poor feeding. J Perinatol 2002;22:506–9. DOI: 10.1038/sj.jp.7210755

11. McEwan P., Simpson D., Kirk J.M. et al. Short report: hyperammonaemia in critically ill septic infants. Arch Dis Child 2001;84:512–3. DOI: 10.1136/adc.84.6.512

12. McKusick V.A. Online Mendelian Inheritance in Man (OMIM). Baltimore: The Johns Hopkins University. Available at: http://omim.org/entry/215700.

13. Potter M.A., Zeesman S., Brennan B. et al. Pregnancy in a healthy woman with untreated citrullinemia. Am J Med Genet A 2004;129A:77–82.

14. Ruitenbeek W., Kobayashi K., Iijima M. et al. Moderate citrullinaemia without hyperammonaemia in a child with mutated and deficient argininosuccinate synthetase. Ann Clin Biochem 2003;40:102–7.

15. Summar M.L., Koelker S., Freedenberg D. et al. The incidence of urea cycle disorders. Mol Genet Metab 2013;110:179–81. DOI: 10.1016/j.ymgme.2013.07.008

16. Unsinn C., Das A., Valayannopoulos V. et al. Clinical course of 63 patients with neonatal onset urea cycle disorders in the years 2001–2013. Orphanet J Rare Dis 2016;11(1):116. DOI: 10.1186/s13023-016-0493-0

17. Whitington P.F., Alonso E.M., Boyle J.T. et al. Liver transplantation for the treatment of urea cycle disorders. J Inherit Metab Dis 1998;21(Suppl 1):112–8.


Review

For citations:


Golosnaya G.S., Belousova T.N., Novikov M.Yu., Knyazeva N.Yu., Podkopaev D.Yu., Trifonova E.G., Makulova A.I., Ginen Ya.Ya., Kozheurova Z.A., Kholichev D.A., Politov D.A., Baranova P.V., Ermolenko N.A., Krasnorutskaya O.N., Kaledina E.Ya., Tukabaev G.P., Ogurtsov A.V., Seleznev K.A. Citrullinemia in a newborn: a case report. Russian Journal of Child Neurology. 2022;17(3):72-78. (In Russ.) https://doi.org/10.17650/2073-8803-2022-17-3-72-78

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ISSN 2073-8803 (Print)
ISSN 2412-9178 (Online)