{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Ling S"],"funding":["the Scientific Research Project Plan of Shanghai Municipal Health Commission","National Key Research and Development Program of China"],"pagination":["84"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC11288086"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["18(1)"],"pubmed_abstract":["Background
Isolated methylmalonic acidemia, an autosomal recessive disorder of propionate metabolism, is usually caused by mutations in the methylmalonyl-CoA mutase gene (mut-type). Because no universal consensus was made on whether mut-type methylmalonic acidemia should be included in newborn screening (NBS), we aimed to compare the outcome of this disorder detected by NBS with that detected clinically and investigate the influence of NBS on the disease course.Design & methods
In this study, 168 patients with mut-type methylmalonic acidemia diagnosed by NBS were compared to 210 patients diagnosed after disease onset while NBS was not performed. Clinical data of these patients from 7 metabolic centers in China were analyzed retrospectively, including initial manifestations,"],"journal":["Human genomics"],"pubmed_title":["Clinical outcomes of patients with mut-type methylmalonic acidemia identified through expanded newborn screening in China."],"pmcid":["PMC11288086"],"funding_grant_id":["202140346","2016YFC0901505"],"pubmed_authors":["Zou H","Shuai R","Ling S","Xu P","Gu X","Han L","Zhang H","Xu F","Yang C","Qiu W","Niu T","Feng J","Hu H","Wu S","Liang L","Wei H","Wang Y","Yu Y","Chen T"],"additional_accession":[]},"is_claimable":false,"name":"Clinical outcomes of patients with mut-type methylmalonic acidemia identified through expanded newborn screening in China.","description":"Background
Isolated methylmalonic acidemia, an autosomal recessive disorder of propionate metabolism, is usually caused by mutations in the methylmalonyl-CoA mutase gene (mut-type). Because no universal consensus was made on whether mut-type methylmalonic acidemia should be included in newborn screening (NBS), we aimed to compare the outcome of this disorder detected by NBS with that detected clinically and investigate the influence of NBS on the disease course.Design & methods
In this study, 168 patients with mut-type methylmalonic acidemia diagnosed by NBS were compared to 210 patients diagnosed after disease onset while NBS was not performed. Clinical data of these patients from 7 metabolic centers in China were analyzed retrospectively, including initial manifestations,","dates":{"release":"2024-01-01T00:00:00Z","publication":"2024 Jul","modification":"2026-06-03T00:18:41.522Z","creation":"2026-04-22T03:12:01.704Z"},"accession":"S-EPMC11288086","cross_references":{"pubmed":["39075538"],"doi":["10.1186/s40246-024-00646-0"]}}