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

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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.

About the authors

D. V. I

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

Author for correspondence.
Email: i.dima.email@gmail.com
ORCID iD: 0000-0002-9967-0279

Dmitriy Vitalyevich I

5a Tramvaynyy Proezd, Khabarovsk 680012

35 Muravyova-Amurskogo St., Khabarovsk 680000

Russian Federation

G. E. Shcherbakov

Far Eastern State Medical University, Ministry of Health of Russia

Email: fake@neicon.ru
ORCID iD: 0009-0008-3303-2224

35 Muravyova-Amurskogo St., Khabarovsk 680000

Russian Federation

V. A. Duplishcheva

Far Eastern State Medical University, Ministry of Health of Russia

Email: fake@neicon.ru
ORCID iD: 0009-0000-4219-0138

35 Muravyova-Amurskogo St., Khabarovsk 680000

Russian Federation

S. A. Seregin

LLC “Clinic Expert Khabarovsk”

Email: fake@neicon.ru
ORCID iD: 0000-0001-7495-7153

20b Promyshlennaya St., Khabarovsk 680009

Russian Federation

D. D. Gaynetdinova

Kazan State Medical University, Ministry of Health of Russia

Email: fake@neicon.ru
ORCID iD: 0000-0002-4255-9107

49 Butlerova St., Kazan 420012

Russian Federation

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Copyright (c) 2024 I D.V., Shcherbakov G.E., Duplishcheva V.A., Seregin S.A., Gaynetdinova D.D.

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