Russian Journal of Child NeurologyRussian Journal of Child NeurologyРусский журнал детской неврологии2073-88032412-9178Publishing House ABV Press40810.17650/2073-8803-2022-17-3-72-78CLINICAL OBSERVATIONSКЛИНИЧЕСКИЕ НАБЛЮДЕНИЯCitrullinemia in a newborn: a case reportЦитруллинемия у новорожденного: клинический случайhttps://orcid.org/0000-0001-6103-7171GolosnayaG. S.ГолоснаяГ. С.
Russian Federation

Galina Stanislavovna Golosnaya 

2 Elanskogo St., Moscow 119881

Галина Станиславовна Голосная 

119881 Москва, ул. Еланского, 2

ggolosnaya@yandex.ruhttps://orcid.org/0000-0003-3804-7691BelousovaT. N.БелоусоваТ. Н.
Russian Federation

17 Zavodskaya St., Vidnoye 142703

142703 Видное, ул. Заводская, 17

https://orcid.org/0000-0002-1079-2828NovikovM. Yu.НовиковМ. Ю.
Russian Federation

17 Zavodskaya St., Vidnoye 142703

142703 Видное, ул. Заводская, 17

https://orcid.org/0000-0002-6431-4215KnyazevaN. Yu.КнязеваН. Ю.
Russian Federation

17 Zavodskaya St., Vidnoye 142703

142703 Видное, ул. Заводская, 17

https://orcid.org/0000-0001-7251-4420PodkopaevD. Yu.ПодкопаевД. Ю.
Russian Federation

17 Zavodskaya St., Vidnoye 142703

142703 Видное, ул. Заводская, 17

https://orcid.org/0000-0001-7398-6243TrifonovaE. G.ТрифоноваЕ. Г.
Russian Federation

17 Zavodskaya St., Vidnoye 142703

142703 Видное, ул. Заводская, 17

https://orcid.org/0000-0001-9952-3159MakulovaA. I.МакуловаА. И.
Russian Federation

25 Shmidtovskiy Proezd, Moscow 123317

123317 Москва, Шмидтовский проезд, 25

https://orcid.org/0000-0001-9424-5014GinenYa. Ya.ГиненЯ. Я.
Russian Federation

15 Zavodskaya St., Vidnoye 142700

142700 Видное, ул. Заводская, 15

https://orcid.org/0000-0002-9540-2752KozheurovaZ. A.КожеуроваЗ. А.
Russian Federation

17 Zavodskaya St., Vidnoye 142703

142703 Видное, ул. Заводская, 17

https://orcid.org/0000-0002-1989-9429KholichevD. A.ХоличевД. А.
Russian Federation

17 Zavodskaya St., Vidnoye 142703

142703 Видное, ул. Заводская, 17

PolitovD. A.ПолитовД. А.
Russian Federation

17 Zavodskaya St., Vidnoye 142703

142703 Видное, ул. Заводская, 17

https://orcid.org/0000-0001-6664-7577BaranovaP. V.БарановаП. В.
Russian Federation

1 Moskvorechye St., Moscow 115522

115522, Москва, ул. Москворечье, 1

https://orcid.org/0000-0001-7197-6009ErmolenkoN. A.ЕрмоленкоН. А.
Russian Federation

10 Studencheskaya St., Voronezh 394036

394036 Воронеж, ул. Студенческая, 10

https://orcid.org/0000-0003-4796-7334KrasnorutskayaO. N.КрасноруцкаяО. Н.
Russian Federation

10 Studencheskaya St., Voronezh 394036

394036 Воронеж, ул. Студенческая, 10

https://orcid.org/0000-0001-9459-6789KaledinaE. Ya.КалединаЕ. Я.
Russian Federation

10 Studencheskaya St., Voronezh 394036

394036 Воронеж, ул. Студенческая, 10

https://orcid.org/0000-0001-5883-2633TukabaevG. P.ТукабаевГ. П.
Russian Federation

25 Shmidtovskiy Proezd, Moscow 123317

123317 Москва, Шмидтовский проезд, 25

https://orcid.org/0000-0002-2788-442XOgurtsovA. V.ОгурцовА. В.
Russian Federation

2 Elanskogo St., Moscow 119881

119881 Москва, ул. Еланского, 2

https://orcid.org/0000-0002-9939-3259SeleznevK. A.СелезневК. А.
Russian Federation

17 Zavodskaya St., Vidnoye 142703

142703 Видное, ул. Заводская, 17

V.F. Snegirev Clinic of Obstetrics and Gynecology, I.M. Sechenov First Moscow State Medical University, Ministry of Health of RussiaКлиника акушерства и гинекологии им. В.Ф. Снегирева Университетской клинической больницы № 2 ФГАОУ ВО «Первый Московский государственный медицинский университет им. И.М. Сеченова» Минздрава РоссииVidnoye Perinatal CenterГБУЗ МО «Видновский перинатальный центр»G.N. Speranskiy Children’s City Clinical Hospital No. 9, Moscow Healthcare DepartmentГБУЗ «Детская городская клиническая больница № 9 им. Г.Н. Сперанского ДЗМ»Vidnoye Regional Clinical HospitalГБУЗ МО «Видновская районная клиническая больница»N.P. Bochkov Research Center for Medical GeneticsФГБНУ «Медико-генетический научный центр им. акад. Н.П. Бочкова»N.N. Burdenko Voronezh State Medical UniversityФГБОУ ВО «Воронежский государственный медицинский университет им. Н.Н. Бурденко»1507202217372781712202217122022Copyright ©; 2022, ABV-PressCopyright ©; 2022, АБВ-пресс2022ABV-PressАБВ-прессhttps://rjdn.abvpress.ru/jour/about/editorialPolicieshttps://rjdn.abvpress.ru/jour/article/view/408

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.

Особое место в случаях внезапного ухудшения состояния новорожденного занимают наследственные болезни обмена веществ. Для ряда этих болезней разработаны методы терапии, и точная верификация диагноза крайне важна для выбора определенной тактики лечения. В условиях быстрого прогрессирования симптоматики это не всегда удается. Представляем клинический случай цитруллинемии, диагностированной в условиях Видновского перинатального центра.

newborninherited metabolic disorderscitrullinemiaноворожденныйнаследственные болезни обмена веществцитруллинемия1. 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.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.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/s00431-003-1188-9Bachmann C. Outcome and survival of 88 patients with urea cycle disorders: A retrospective evaluation. Eur J Pediatr 2003;162:410–6. DOI: 10.1007/s00431-003-1188-94. Brar G., Thomas R., Bawle E. Transient hyperammonemia in preterm infants with hypoxia. Pediatr Res 2004;56:671. DOI: 10.1203/00006450-200410000-00052Brar G., Thomas R., Bawle E. Transient hyperammonemia in preterm infants with hypoxia. Pediatr Res 2004;56:671. DOI: 10.1203/00006450-200410000-000525. 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.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: 10.1186/1477-7525-11-158Fabre 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: 10.1186/1477-7525-11-1587. 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/s10545-007-0709-5Gropman A.L., Summar M., Leonard J.V. Neurological implications of urea cycle disorders. J Inherit Metab Dis 2007;30:865–79. DOI: 10.1007/s10545-007-0709-58. 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.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: 10.1186/1750-1172-7-32Haeberle 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: 10.1186/1750-1172-7-3210. 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.7210755Joseph 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.721075511. 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.84.6.512McEwan 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.84.6.51212. McKusick V.A. Online Mendelian Inheritance in Man (OMIM). Baltimore: The Johns Hopkins University. Available at: http://omim.org/entry/215700.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.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.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.2013.07.008Summar 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.2013.07.00816. 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/s13023-016-0493-0Unsinn 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/s13023-016-0493-017. 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.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.