China nationwide landscape of 16 types inherited metabolic disorders: a retrospective analysis on 372,255 clinical cases.

ABSTRACT:

Background

Inherited metabolic disorders (IMDs) usually occurs at young age and hence it severely threatening the health and life of young people. While so far there lacks a comprehensive study which can reveals China's nationwide landscape of IMDs. This study aimed to evaluate IMDs incidence and regional distributions in China at a national and province level to guide clinicians and policy makers.

Methods

The retrospective study conducted from January 2012 to March 2021, we analyzed and characterized 372255 cases' clinical test information and diagnostic data from KingMed Diagnostics Laboratory. The samples were from 32 provincial regions of China, the urine organic acids were detected by gas chromatography-mass spectrometry (GC-MS), amino acids and acylcarnitines in dried

SUBMITTER: Zhao B 

PROVIDER: S-EPMC10398906 | biostudies-literature | 2023 Aug

REPOSITORIES: biostudies-literature