Korean J Hepatol.  2008 Jun;14(2):219-225. 10.3350/kjhep.2008.14.2.219.

An adult case of glycogen storage disease type IIIa

• Kim KO
• Lee HJ
• Choi JW
• Eun JR
• Choi JH

• KMID: 760787
• DOI: http://doi.org/10.3350/kjhep.2008.14.2.219

Abstract

Glycogen storage disease type III (GSD III) is a very rare disorder caused by a deficiency in the activities of glycogen debranching enzymes (amylo-1-6-glucosidase and 4-alpha-glucanotransferase). GSD III is characterized by the accumulation of abnormal glycogen in the liver and skeletal muscle. The primary clinical manifestations are hepatomegaly, fasting hypoglycemia, and hyperlipidemia in infants. We report a rare case of GSD III in an adult. A 52-year-old woman presented to our clinic due to dyspnea on exertion, severe general weakness, and hepatomegaly. Hypertrophic cardiomyopathy was diagnosed based on echocardiogram findings. The microscopic findings of liver and skeletal muscle biopsies were consistent with the diagnosis of GSD. DNA analysis prompted by clinical and pathologic findings led to a definitive diagnosis of GSD IIIa. Diet therapy with cornstarch was started, and the patient was followed closely. This represents the first reported case of GSD IIIa diagnosed in an adult in Korea.

Keyword

Glycogen Storage Disease Type III; AGL

MeSH Terms

Amino Acid Substitution
Base Sequence
Female
Glycogen Storage Disease Type III/*diagnosis/genetics/pathology
Hepatomegaly/genetics
Heterozygote
Humans
Liver/pathology
Middle Aged
Molecular Sequence Data
Muscle, Skeletal/pathology
Starch/therapeutic use
Tomography, X-Ray Computed