Glycogen storage disease type Ia misdiagnosed as multiple acyl-coenzyme A dehydrogenase deficiency by mass spectrometry

Glycogen storage disease type Ia misdiagnosed as multiple acyl-coenzyme A dehydrogenase deficiency by mass spectrometry

ObjectiveTo report a case of glycogen storage disease (GSD) type Ia misdiagnosed as multiple acyl-coenzyme a dehydrogenase deficiency (MADD) by mass spectrometry.MethodsA 7 months old boy was admitted to our hospital for elevated transaminase levels lasting more than 1 month. His blood biochemistry...

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Bibliographic Details
Main Authors: Juan Du, Li-Min Dou, Yong-Hong Jin, Qing-Fen Wen, Ya-Fen Lin, Jian-She Wang
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-11-01
Series:Frontiers in Pediatrics
Subjects:
glycogen storage disease type Ia
glucose-6-Phosphatase
multiple acyl- coenzyme a dehydrogenase deficiency
mass spectrometry
gene variant
Online Access:https://www.frontiersin.org/articles/10.3389/fped.2022.999596/full

Internet

https://www.frontiersin.org/articles/10.3389/fped.2022.999596/full

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