Glutaric aciduria type 1 – the mask cerebral palsy (case report)-Reference-Cited by-同舟云学术

Glutaric aciduria type 1 – the mask cerebral palsy (case report)

Published:2024-01-05 Issue:4 Volume:13 Page:97-102
ISSN:2413-0443
Container-title:Neuromuscular Diseases
language:
Short-container-title:Neuromuscular Diseases

Author:

I D. V.¹^ORCID,Shcherbakov G. E.²^ORCID,Duplishcheva V. A.²^ORCID,Seregin S. A.³^ORCID,Gaynetdinova D. D.⁴^ORCID

Affiliation:

1. Khabarovsk Center for the Development of Psychology and Childhood “Psylogy”; Far Eastern State Medical University, Ministry of Health of Russia

2. Far Eastern State Medical University, Ministry of Health of Russia

3. LLC “Clinic Expert Khabarovsk”

4. Kazan State Medical University, Ministry of Health of Russia

Abstract

We report an 8-year-old patient with glutaric aciduria type 1 associated with compound heterozygous mutations c.1204C>T (p.Arg402Trp) and c.547C>T (p.Ser216Leu) in GCDH. Clinical case illustrates the difficulty in diagnosing this hereditary disease, its mimicry of neonatal hypoxic-ischemic encephalopathy and cerebral palsy. The timeliness of early diagnosis and initiation of specific therapy makes it possible to improve the condition of patients.

Publisher

Publishing House ABV Press

Reference25 articles.

1. Wang Q., Li X., Ding Y. et al. Clinical and mutational spectra of 23 Chinese patients with glutaric aciduria type 1. Brain Dev 2014;36(9):813–22. DOI: 10.1016/j.braindev.2013.11.006

2. Govender R., Mitha A., Mubaiwa L. A review of patients with glutaric aciduria type 1 at Inkosi Albert Luthuli Central Hospital, Durban, South Africa. S Afr Med J 2017;107(3):201–4. DOI: 10.7196/SAMJ.2017.v107i3.11332

3. Zhang Y., Li H., Ma R. et al. Clinical and molecular investigation in Chinese patients with glutaric aciduria type 1. Clin Chim Acta 2016;453:75–9. DOI: 10.1016/j.cca.2015.12.003

4. Bugun O.V., Martynovich N.N., Bogonosova G.P. et al. Inherited metabolic diseases: aminoacidopathies, organic acidemia, defects of mitochondrial β-oxidation. A brief overview. Acta Biomedica Scientifica 2021;6(5):112–25. (In Russ.). DOI: 10.29413/ABS.2021-6.5.11

5. Kurkina M.V., Mihaylova S.V., Baydakova G.V. et al. Molecular and biochemical study of glutaric aciduria type 1 in 49 Russian families: Nine novel mutations in the GCDH gene. Metab Brain Dis 2020;35(6):1009–16. DOI: 10.1007/s11011-020-00554-x