Features and diffi culties of medical supportive care for patients in making a clinical diagnosis of hereditary metabolic diseases from the group of extended neonatal screening (exemplified by a clinical case of isovaleric acidemia)
https://doi.org/10.31549/2542-1174-2025-9-4-133-144
Abstract
Introducing expanded neonatal screening (ENS) into medical practice in the Russian Federation (RF), in accordance with the Order of the Ministry of Health of the RF No. 274n dated 21.04.2022 “On approval of the procedure for providing medical care to patients with congenital and (or) hereditary diseases”, significantly increased the detection of hereditary metabolic diseases (HMDs) in children. However, due to several reasons, the diagnosis of orphan diseases is still fraught with great difficulties.
In this review, we present the currently available data on isovaleric acidemia/aciduria (IVA), one of the HMDs from the ENS group of diseases. The issues of epidemiology, etiopathogenesis, clinical manifestation, diagnosis and treatment of this orphan disease are considered. As an illustration of the features of medical supportive care for pediatric patients with a preliminary positive ENS for IVA, and the difficulties at the stage of verifying the diagnosis, we present a case from our own practice.
About the Authors
M. S. Panova
Novosibirsk State Medical University
Russian Federation
Russian Federation
Marina S. Panova – Cand. Sci. (Med.), Assistant, Departments of Pediatrics and Neonatology
Novosibirsk
T. V. Belousova
Novosibirsk State Medical University; Novosibirsk State Regional Clinical Hospital
Russian Federation
Russian Federation
Tamara V. Belousova – Dr. Sci. (Med.), Professor, Head, Departments of Pediatrics and Neonatology
Novosibirsk
I. V. Andryushina
Novosibirsk State Medical University
Russian Federation
Russian Federation
Irina V. Andryushina – Cand. Sci. (Med.), Associate Professor, Departments of Pediatrics and Neonatology
Novosibirsk
A. V. Lebedeva
Novosibirsk State Medical University; Novosibirsk State Regional Clinical Hospital
Russian Federation
Russian Federation
Anastasia V. Lebedeva – Assistant, Departments of Pediatrics and Neonatology
Novosibirsk
References
1. Voronin S.V., Zakharova E.Yu., Baydakova G.V. et al. Advanced neonatal screening for hereditary diseases in Russia: fi rst results and future prospects. Pediatriya. Zhurnal im. G.N. Speranskogo. 2024;103(1):16-29. DOI: 10.24110/0031-403X-2024-103-1-16-29. (In Russ.)
2. Lin Y., Chen D., Peng W. et al. Newborn screening for isovaleric acidemia in Quanzhou, China. Clin. Chim. Acta. 2020;509:25-29. DOI: 10.1016/j.cca.2020.06.010.
3. Rock R., Rock O., Daas S. et al. Newborn screening algorithm distinguishing potential symptomatic isovaleric acidemia from asymptomatic newborns. J. Inherit. Metab. Dis. 2025;48(1):e12800. DOI: 10.1002/jimd.12800.
4. Mikhailova S.V., Zakharova E.Yu., Petrukhin A.S. (2024). Neurometabolic diseases in children and adolescents: Diagnosis and Treatment Approaches. 3rd ed., revised. Moscow: Litterra. 400 p. (In Russ.)
5. Kutseva S.I. (ed.) (2024). Neonatal screening: National guidelines. Moscow: GEOTAR-Media. 360 p. (In Russ.)
6. Zegarra Buitron E., Vidal Panduro D.A., Guillen Ramirez N.S., Gonzalez Arteaga M. Isovaleric acidemia: a case report. Cureus. 2023;15(11):e49362. DOI: 10.7759/cureus.49362.
7. Wu F., Fan S.J., Zhou X.H. Neonatal isovaleric acidemia in China: A case report and review of literature. World J. Clin. Cases. 2021;9(2):436-444. DOI: 10.12998/wjcc.v9.i2.436.
8. Isovaleric acidemia/aciduria: clinical guidelines / Union of Pediatricians of Russia, Association of Medical Geneticists. 2024. URL: https://cr.minzdrav.gov.ru/view-cr/405_3 (accessed 29.05.2025).
9. Mütze U., Reischl-Hajiabadi A., Kölker S. et al. Classic isovaleric acidemia. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993. 2024 Mar 14.
10. Mütze U., Henze L., Gleich F. et al. Newborn screening and disease variants predict neurological outcome in isovaleric aciduria. J. Inherit. Metab. Dis. 2021; 44(4):857-870. DOI: 10.1002/jimd.12364.
11. Grünert S.C., Wendel U., Lindner M. et al. Clinical and neurocognitive outcome in symptomatic isovaleric academia. Orphanet J. Rare Dis. 2012;7:9. DOI: 10.1186/1750-1172-7-9.
12. Schlune A., Riederer A., Mayatepek E., Ensenauer R. Aspects of newborn screening in isovaleric academia. Int. J. Neonatal Screen. 2018;4(1):7. DOI: 10.3390/ijns4010007.
13. Tuncel A.T., Boy N., Morath M.A. et al. Organic acidurias in adults: late complications and management. J. Inherit. Metab. Dis. 2018; 41(5):765-776. DOI: 10.1007/s10545-017-0135-2.
14. Heringer J., Valayannopoulos V., Lund A.M. et al. Impact of age at onset and newborn screening on outcome in organic acidurias. J. Inherit. Metab. Dis. 2016; 39(3):341-353. DOI: 10.1007/s10545-015-9907-8.
15. Murko S., Aseman A.D., Reinhardt F. et al. Neonatal screening for isovaleric aciduria: Reducing the increasingly high false-positive rate in Germany. JIMD Rep. 2022;64:114-120. DOI: 10.1002/jmd2.12345
16. Ding S., Liang L., Qiu W. et al. Prenatal diagnosis of isovaleric acidemia from amniotic fl uid using genetic and biochemical approaches. Front. Genet. 2022; 13:898860. DOI: 10.3389/fgene.2022.898860.
17. Romanenko O.P. Infant feeding in hereditary metabolic diseases. Medicine: Theory and Practice. 2019;4(1):52-61. (In Russ.)
18. Mütze U., Garbade S.F., Gleich F. et al. Long-term anthropometric development of individuals with inherited metabolic diseases identifi ed by newborn screening. J. Inherit. Metab. Dis. 2023;46(1):15-27. DOI: 10.1002/jimd.12563.
Review
For citations:
Panova M.S., Belousova T.V., Andryushina I.V., Lebedeva A.V. Features and diffi culties of medical supportive care for patients in making a clinical diagnosis of hereditary metabolic diseases from the group of extended neonatal screening (exemplified by a clinical case of isovaleric acidemia). Journal of Siberian Medical Sciences. 2025;(4):133-144. https://doi.org/10.31549/2542-1174-2025-9-4-133-144
Views:
13
Email this article 