Glycogen storage disease type III (GSD III) is caused by a deficiency in debranching
enzyme, which leads to an accumulation of abnormal
glycogen called limit
dextrin in affected tissues. Muscle and liver involvement is present in GSD type IIIa, while the defect is limited to the liver only in GSD type IIIb. Besides skeletal muscle involvement, a
cardiomyopathy resembling idiopathic
hypertrophic cardiomyopathy is seen. Management consists of maintaining normoglycaemia by supplementation with
cornstarch therapy and/or
protein. While studies are lacking regarding the best treatment for skeletal muscle disease, a
high-protein diet was previously reported to be beneficial. No cases of improvement in
cardiomyopathy have been reported. Our patient presented in infancy with hypoglycaemia and
hepatomegaly. His prescribed management consisted of
cornstarch supplementation and a
high-protein diet providing 20% of his total energy needs. At 16 years of age, he developed a severe
cardiomyopathy with a left ventricular mass index of 209 g/m(2). The
cardiomyopathy remained stable on a
protein intake of 20-25% of total energy. At age 22 years, the diet was changed to increase his
protein intake to 30% of total energy and minimize his
cornstarch therapy to only what was required to maintain normoglycaemia. Dramatic improvement in the
cardiomyopathy occurred. Over one year, his left ventricular mass index decreased from 159.7 g/m(2) to 78 g/m(2) (normal 50-86 g/m(2)) and the
creatine kinase levels decreased from 455 U/L to 282 U/L. Avoidance of overtreatment with
carbohydrate and a
high-protein diet can reverse and may prevent
cardiomyopathy.