Case Report: Adenylosuccinate lyase deficiency type I caused by splicing disruption due to a novel missense variant in the ADSL gene

Adenylosuccinate lyase deficiency (ALD) is a rare neurometabolic disorder caused by biallelic loss-of-function variants in the ADSL gene. We report a severe type I ALD case involving a 2-year-old boy presenting with early-onset polymorphic seizures (clonic/myoclonic), developmental delay, and progre...

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Autori principali:	Artem Borovikov, Ksenia Davydenko, Aysylu Murtazina, Artem Sharkov, Ilya Kanivets, Alexandra Filatova, Mikhail Skoblov
Natura:	Artigo
Lingua:	Inglês
Pubblicazione:	Frontiers Media S.A. 2025-10-01
Serie:	Frontiers in Genetics
Soggetti:	ADSL ALD adenylosuccinate lyase deficiency case report splicing
Accesso online:	https://www.frontiersin.org/articles/10.3389/fgene.2025.1670299/full
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