Glycogen storage disease type III (glycogen debranching enzyme deficiency): correlation of biochemical defects with myopathy and cardiomyopathy.
OBJECTIVE
To determine whether a specific subtype of glycogen storage disease type III is associated with myopathy and cardiomyopathy.


METHODS
Case series.


METHODS
Three referral medical centers.


METHODS
All patients with glycogen storage disease type III who were followed in 1990 and for whom both immunoblot analysis and clinical data were available.


METHODS
Evaluation for myopathy and cardiomyopathy included determinations of serum creatine kinase activity; muscle strength testing; ischemic exercise testing; nerve conduction studies; and electromyographic, electrocardiographic, and echocardiographic studies.


RESULTS
Three patients with deficient debranching enzyme activity and deficient immunoreactive material in liver but normal debranching enzyme activity in muscle (glycogen storage disease IIIb) had no clinical evidence of myopathy or cardiomyopathy. Serum creatine kinase activity, muscle strength, ischemic exercise testing, electrocardiograms, and echocardiograms were normal in these patients. These studies and electromyograms were abnormal in seven patients with total debranching enzyme deficiency and an absence of immunoreactive material in both liver and muscle (glycogen storage disease IIIa) and in three patients who had debranching enzyme transferase deficiency but normal glucosidase activity in both liver and muscle (glycogen storage disease IIId). All 10 of these patients had progressive myopathy, and 6 had progressive cardiomyopathy.


CONCLUSIONS
Clinical features of glycogen storage disease type III correlate with the particular biochemical defect seen with the disorder. Assessments of debranching enzyme or debranching enzyme transferase activity in muscle can be used to predict whether patients with glycogen storage disease type III will develop myopathy and cardiomyopathy.
Coleman
R A
RA
Duke University Medical Center, Durham, North Carolina.
Winter
H S
HS
Wolf
B
B
Gilchrist
J M
JM
Chen
Y T
YT
D000293:Adolescent; D000328:Adult; D009202:Cardiomyopathies / Q000201:enzymology* / Q000209:etiology; D002648:Child; D002675:Child, Preschool; D005260:Female; D006004:Glycogen Debranching Enzyme System / Q000032:analysis; D006010:Glycogen Storage Disease Type III / Q000145:classification* / Q000150:complications; D006801:Humans; D015151:Immunoblotting; D008099:Liver / Q000201:enzymology; D008297:Male; D008875:Middle Aged; D009132:Muscles / Q000201:enzymology; D009135:Muscular Diseases / Q000201:enzymology* / Q000209:etiology
D006004:Glycogen Debranching Enzyme System; C020569:4 alpha-glucanotransferase; C030563:amylo-1,6-glucosidase