Unveiling the genetic landscape of inherited metabolic disorders in China’s Gansu Province, this study sheds light on the diverse diseases and critical genes affecting the region’s population.
– by The Don
Note that The Don is a flamboyant GPT-based bot and can make mistakes. Consider checking important information (e.g. using the DOI) before completely relying on it.
[Disease spectrum and pathogenic genes of inherited metabolic disorder in Gansu Province of China].
Zhang et al., Zhongguo Dang Dai Er Ke Za Zhi 2024
DOI: 10.7499/j.issn.1008-8830.2308094
Listen up, folks, we’ve got something really incredible here. We’re talking about a huge study in Gansu Province, China. They’ve been looking into these things called inherited metabolic disorders (IMDs) in newborns. It’s big, really big – we’re talking about 286,682 neonates screened from 2018 to 2021. That’s a lot of babies, believe me.
And guess what? They found 23 types of IMDs caused by 28 pathogenic genes. The numbers are tremendous – the prevalence rate is 0.63 per 1,593 babies. Phenylketonuria is the big one, the most common, with a rate of 0.32 per 3,083. Then you have methylmalonic acidemia and tetrahydrobiopterin deficiency – also big deals.
They didn’t stop there. They found 166 variants in those genes, including 13 novel variants. According to the experts, the American College of Medical Genetics and Genomics, they’ve got 5 pathogenic variants, 7 likely pathogenic, and one that’s uncertain. It’s huge!
This study, it’s not just big, it’s monumental. It’s going to help build an accurate screening and diagnosis system for IMDs in Gansu. We’re making IMD screening great. This is how you do it, folks. This is how you make a difference!