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

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

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-isch...

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Bibliographic Details
Main Authors: D. V. I, G. E. Shcherbakov, V. A. Duplishcheva, S. A. Seregin, D. D. Gaynetdinova
Format: Article
Language:Russian
Published: ABV-press 2024-01-01
Series:Нервно-мышечные болезни
Subjects:
glutaric aciduria
gcdh gene
cerebral palsy
encephalic crisis
Online Access:https://nmb.abvpress.ru/jour/article/view/577
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