Analysis of the genotype–phenotype correlation in isovaleric acidaemia: A case report of long-term follow-up of a chinese patient and literature review

Analysis of the genotype–phenotype correlation in isovaleric acidaemia: A case report of long-term follow-up of a chinese patient and literature review

BackgroundIsovaleric acidaemia (IVA), characterized by an acute metabolic crisis and psychomotor delay, is a rare inherited metabolic disease caused by a deficiency in isovaleryl-CoA dehydrogenase (IVD).MethodsWe report the case of a Chinese patient with IVA who was admitted to Tianjin Children'...

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Bibliographic Details
Main Authors: Xingmiao Liu, Xinquan Liu, Wenxuan Fan, Zhongbin Zhang, Peiyuan Zhang, Xiaojun Liu, Meifang Lei, Qing Li, Xiaoli Yu, Dong Li
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-07-01
Series:Frontiers in Neurology
Subjects:
isovaleric acidaemia
isovaleryl-CoA dehydrogenase (IVD)
inherited metabolic disease
genotype-phenotype correlation
case report
Online Access:https://www.frontiersin.org/articles/10.3389/fneur.2022.928334/full

Internet

https://www.frontiersin.org/articles/10.3389/fneur.2022.928334/full

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