C4OH is a potential newborn screening marker—a multicenter retrospective study of patients with beta-ketothiolase deficiency in China

C4OH is a potential newborn screening marker—a multicenter retrospective study of patients with beta-ketothiolase deficiency in China

Abstract Background Beta-ketothiolase deficiency (BKTD) is an autosomal recessive disorder caused by biallelic mutation of ACAT1 that affects both isoleucine catabolism and ketolysis. There is little information available regarding the incidence, newborn screening (NBS), and mutational spectrum of B...

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Bibliographic Details
Main Authors: Yiming Lin, Zhantao Yang, Chiju Yang, Haili Hu, Haiyan He, Tingting Niu, Mingfang Liu, Dongjuan Wang, Yun Sun, Yuyan Shen, Xiaole Li, Huiming Yan, Yuanyuan Kong, Xinwen Huang
Format: Article
Language:English
Published: BMC 2021-05-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Beta-ketothiolase deficiency
Chinese
Newborn screening
ACAT1
Isoleucine catabolism
Online Access:https://doi.org/10.1186/s13023-021-01859-5

Internet

https://doi.org/10.1186/s13023-021-01859-5

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