Updated Gene Therapy for Renal Inborn Errors of Metabolism DOI Open Access

Sean Hergenrother,

Mustafa Husein,

C Ward Thompson

и другие.

Genes, Год журнала: 2025, Номер 16(5), С. 516 - 516

Опубликована: Апрель 29, 2025

Inborn errors of metabolism (IEMs) are a group disorders resulting from defects in enzymes metabolic pathways. These impact the processing metabolites, leading to wide array effects on each organ system. Advances genetic screening have allowed for early identification and intervention IEMs, traditionally form enzyme replacement or vitamin supplementation. However, many IEMs disrupt essential pathways where simple supplementation proves ineffective, substantial disease burden. In case renal pathway disruption leads onset chronic kidney (CKD). For these diseases, therapy provides hope. Over past few decades, technology has emerged as promising solution disorders. therapies aim correct source defect code so that patients may live full, unencumbered lives. this review, we searched large database identify affect investigated current landscape progression gene technology. Multiple were identified affecting kidney, including primary hyperoxaluria, argininemia, glycogen storage diseases Ia Ib, Fabry disease. Emerging approaches using adeno-associated virus (AAV) vectors, lentiviral CRISPR/Cas9 techniques hold potential provide curative treatments additional single-mutation

Язык: Английский

Updated Gene Therapy for Renal Inborn Errors of Metabolism DOI Open Access

Sean Hergenrother,

Mustafa Husein,

C Ward Thompson

и другие.

Genes, Год журнала: 2025, Номер 16(5), С. 516 - 516

Опубликована: Апрель 29, 2025

Inborn errors of metabolism (IEMs) are a group disorders resulting from defects in enzymes metabolic pathways. These impact the processing metabolites, leading to wide array effects on each organ system. Advances genetic screening have allowed for early identification and intervention IEMs, traditionally form enzyme replacement or vitamin supplementation. However, many IEMs disrupt essential pathways where simple supplementation proves ineffective, substantial disease burden. In case renal pathway disruption leads onset chronic kidney (CKD). For these diseases, therapy provides hope. Over past few decades, technology has emerged as promising solution disorders. therapies aim correct source defect code so that patients may live full, unencumbered lives. this review, we searched large database identify affect investigated current landscape progression gene technology. Multiple were identified affecting kidney, including primary hyperoxaluria, argininemia, glycogen storage diseases Ia Ib, Fabry disease. Emerging approaches using adeno-associated virus (AAV) vectors, lentiviral CRISPR/Cas9 techniques hold potential provide curative treatments additional single-mutation

Язык: Английский

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