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Genodiagnostics of Refsum disease (PHYH gene)

Average price: ≈269€
It is treated in 16 clinics
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Genodiagnostics of Refsum disease (PHYH gene)

Description

 Генодиагностика болезни Рефсума основана на выявлении мутаций в гене PHYH, реже. Ген PEX7. Ген PHYH кодирует синтез гидроксилазы фитаноил-кофермента А, фермента, который участвует в метаболизме фитановой кислоты. Недостаток ферментов приводит к накоплению фитановой кислоты в клеточных мембранах сетчатки глаза, кожи, сердца, миелиновой оболочке нервов. На этом фоне у пациентов с болезнью Рефсума развивается пигментный ретинит, аносмия, ихтиоз, аритмия.
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