An adult case of glycogen storage disease type IIIa.
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.
Kim
Kyeong Ok
KO
Department of Internal Medicine, Yeungnam University College of Medicine, Daegu, Korea.
Lee
Heon Ju
HJ
Choi
Jae Won
JW
Eun
Jong Ryul
JR
Choi
Joon Hyuk
JH
D019943:Amino Acid Substitution; D001483:Base Sequence; D005260:Female; D006010:Glycogen Storage Disease Type III / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D006529:Hepatomegaly / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D008099:Liver / Q000473:pathology; D008875:Middle Aged; D008969:Molecular Sequence Data; D018482:Muscle, Skeletal / Q000473:pathology; D013213:Starch / Q000627:therapeutic use; D014057:Tomography, X-Ray Computed
D013213:Starch