Search

Objective: To elucidate and give comprehensive review on the advances in disease modeling in metabolic inborn errors. Materials and Methods: Article search was done in October 10th 2022 in PubMed database, with keywords: "Metabolism "AND "inborn errors"AND "genomic" AND "cell lines" as well as "gene therapy" AND "Metabolism" AND "inborn errors" AND "genomic" from year 2018-2022. Results and Discussion: We got 44 articles that address disease modeling in inborn error of metabolism. Disease modeling is valuable for pathogenesis elucidation, which includes various diseases' modeling in vitro such as, Hermansky-Pudlak syndrome, familial hypercholesterolemia, hypomyelinating leukodystrophy, methylmalonic acidemia, propionic acidemia, neural ceroid lipofuscinosis type-2 disease, lysosomal storage disorder, and mucolipidoses type III alpha/beta. In addition, disease modeling in vivo includes phenylketonuria, Niemann-Pick disease type C1, and oculocutaneous albinism type 1. Conclusion: disease modeling in vitro and in vivo by various methods and advancement in gene editing using CRISPR/Cas9 are valuable for pathogenesis elucidation and prediction of metabolic error correction potential by gene editing, development of new therapeutic agents, and in the future may open new hopes for long term and permanent gene therapy treatment. [ABSTRACT FROM AUTHOR]