Reversal of glycogen storage disease type IIIa-related cardiomyopathy with modification of diet (original) (raw)

Summary

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/m2. 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/m2 to 78 g/m2 (normal 50–86 g/m2) 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.

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Abbreviations

ALT:

alanine aminotransferase

AST:

aspartate aminotransferase

CK:

creatine kinase

GSD:

glycogen storage disease

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Authors and Affiliations

1. Raymond C. Philip Research and Education Unit, Division of Genetics, Department of Pediatrics, University of Florida, Gainesville, Florida, USA
   A. I. Dagli, R. T. Zori, H. McCune & M. K. Maisenbacher
2. Division of Cardiology, Department of Pediatrics, University of Florida, Gainesville, Florida, USA
   T. Ivsic
3. Division of Pediatric Endocrinology and Glycogen Storage Disease Program, Department of Pediatrics, University of Florida, Gainesville, Florida, USA
   A. I. Dagli & D. A. Weinstein
4. Glycogen Storage Disease Program, University of Florida College of Medicine, Box 100296, Gainesville, FL, 32610-0296, USA
   A. I. Dagli

Authors

1. A. I. Dagli
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2. R. T. Zori
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3. H. McCune
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4. T. Ivsic
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5. M. K. Maisenbacher
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6. D. A. Weinstein
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Corresponding author

Correspondence toA. I. Dagli.

Additional information

Communicating editor: Alberto Burlina

Competing interests: None declared

References to electronic databases: Glycogen storage disease type III: OMIM #232400. Amylo-α-1,6-glucosidase: EC 3.2.1.33. 4-α-Glucanotransferase: EC 2.4.1.25. Glycogen phosphorylase enzyme: EC 2.4.1.1.

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Dagli, A.I., Zori, R.T., McCune, H. et al. Reversal of glycogen storage disease type IIIa-related cardiomyopathy with modification of diet.J Inherit Metab Dis 32 (Suppl 1), 103–106 (2009). https://doi.org/10.1007/s10545-009-1088-x

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• Received: 30 October 2008
• Revised: 07 January 2009
• Accepted: 26 January 2009
• Published: 30 March 2009
• Issue Date: December 2009
• DOI: https://doi.org/10.1007/s10545-009-1088-x

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