학술논문
GLYCOGEN STORAGE DISEASE - TYPE 3.
Document Type
Article
Author
Source
Subject
*GLYCOGEN storage disease
*LACTOSE intolerance
*GLYCOGEN storage disease type II
*GROWTH disorders
*PULLULANASE
*ENZYME deficiency
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Language
ISSN
0973-0966
Abstract
The article informs about a 9-month-old girl presenting with asymptomatic hepatomegaly, ultimately diagnosed with glycogen storage disease (GSD) Type 3 through genetic testing, exhibiting typical features such as growth retardation, hyperlipidemia, and transaminase elevation. Topics include the diagnostic process involving clinical evaluation, laboratory investigations, and genetic testing, along with the management approach and characteristic features of GSD Type 3.