|
KMID : 0918520120120020108
|
|
Journal of the Korean Society of Inherited Metabolic Disease
2012 Volume.12 No. 2 p.108 ~ p.112
|
|
|
Glycogen Storage Disease Type III Confirmed by AGL Gene Analysis
|
|
Suh Jung-Hwan
Koo Kyo-Yeon
Kim Kyu-Yeun
Lee Chul-Ho
Yang Jeong-Yoon
Lee Jin-Sung
|
|
|
Abstract
|
|
|
Glycogen storage disease type III (GSD type III, OMIM #232400) is a rare autosomal recessive disease caused by a deficiency of the glycogen-debranching enzyme (GDE) with a mutation in the AGL gene (OMIM *610860). It is known to be bifunctional enzyme, that is, having two independent catalytic activities; 1,4-?-D-glucan 4-?-D-glycosyltransferase (EC 2.4.1.25) and amylo-1,6- glucosidase (EC 3.2.1.33) that occur at separate active sites on a single polypeptide chain. Most
patients with GSD type III usually have symptoms related to decreased glycogenolysis in liver and muscles, such as hepatomegaly, hypoglycemia, failure to thrive, hyperlipidemia, muscle weakness and cardiomyopathy (type IIIa), however some patients show symptoms restricted to liver (type IIIb). GSD type III is diagnosed by enzyme test through liver or muscle biopsy or mutation analysis of the AGL gene. We report the case of GSD type III proven by gene study after liver biopsy, which revealed c.476delA, c.3444_3445insA in exon 6, 27 of AGL gene in Korean patient.
|
|
|
KEYWORD
|
|
|
Glycogen storage disease Type III, Glycogen debranching enzyme system
|
|
|
FullTexts / Linksout information
|
|
|
|
|
|
Listed journal information
|
|
|
|