Biochemical and molecular features of Chinese patients with glutaric acidemia type 1 detected through newborn screening

Biochemical and molecular features of Chinese patients with glutaric acidemia type 1 detected through newborn screening

Abstract Background Glutaric acidemia type 1 (GA1) is a treatable disorder affecting cerebral organic acid metabolism caused by a defective glutaryl-CoA dehydrogenase (GCDH) gene. GA1 diagnosis reports following newborn screening (NBS) are scarce in the Chinese population. This study aimed to assess...

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Bibliographic Details
Main Authors: Yiming Lin, Wenjun Wang, Chunmei Lin, Zhenzhu Zheng, Qingliu Fu, Weilin Peng, Dongmei Chen
Format: Article
Language:English
Published: BMC 2021-08-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Glutaric acidemia type 1
newborn screening
GCDH gene
free carnitine
primary carnitine deficiency
Online Access:https://doi.org/10.1186/s13023-021-01964-5

Internet

https://doi.org/10.1186/s13023-021-01964-5

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