Biochemical and molecular features of chinese patients with glutaric acidemia type 1 from Fujian Province, southeastern China

Biochemical and molecular features of chinese patients with glutaric acidemia type 1 from Fujian Province, southeastern China

Abstract Background Glutaric acidemia type 1 (GA1) is a rare autosomal recessive inherited metabolic disorder caused by variants in the gene encoding the enzyme glutaryl-CoA dehydrogenase (GCDH). The estimated prevalence of GA1 and the mutational spectrum of the GCDH gene vary widely according to ra...

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Bibliographic Details
Main Authors: Jinfu Zhou, Guilin Li, Lin Deng, Peiran Zhao, Yinglin Zeng, Xiaolong Qiu, Jinying Luo, Liangpu Xu
Format: Article
Language:English
Published: BMC 2023-07-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Acylcarnitine profile
GCDH
Glutaric acidemia type 1
Southeastern China
Variant
Online Access:https://doi.org/10.1186/s13023-023-02833-z

Internet

https://doi.org/10.1186/s13023-023-02833-z

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