Article
Compound heterozygous mutations in electron transfer flavoprotein dehydrogenase identified in a young Chinese woman with late-onset glutaric aciduria type II.
Lipids in health and disease - 26 Sept 2017
Xue Ying, Zhou Yun, Zhang Keqin, Li Ling, Kayoumu Abudurexiti, Chen Liye, Wang Yuhui, Lu Zhiqiang
Abstract excerpt
BACKGROUND: Glutaric aciduria type II (GA II) is an autosomal recessive disorder affecting fatty acid and amino acid metabolism. The late-onset form of GA II disorder is almost exclusively associated with mutations in the electron transfer flavoprotein dehydrogenase (ETFDH) gene. Till now, the clinical features of late-onset GA II vary widely and pose a great challenge for diagnosis. The aim of the current study...
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