Improvement in hypertrophic cardiomyopathy after using a high-fat, high-protein and low-carbohydrate diet in a non-adherent child with glycogen storage disease type IIIa

Glycogen storage diseases type IIIa and b (GSDIII) are rare inherited metabolic disorders that are caused by deficiencies of the glycogen debranching enzyme, resulting in the accumulation of abnormal glycogen (‘limit dextrin’) in the muscles. The cardiac storage of limit dextrin causes a form of car...

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Bibliographic Details
Published inMolecular genetics and metabolism reports Vol. 32; p. 100904
Main Authors Kumru Akin, Burcu, Ozturk Hismi, Burcu, Daly, Anne
Format Journal Article
LanguageEnglish
Published Elsevier Inc 01.09.2022
Elsevier
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Summary:Glycogen storage diseases type IIIa and b (GSDIII) are rare inherited metabolic disorders that are caused by deficiencies of the glycogen debranching enzyme, resulting in the accumulation of abnormal glycogen (‘limit dextrin’) in the muscles. The cardiac storage of limit dextrin causes a form of cardiomyopathy similar to primary hypertrophic cardiomyopathy. Treatment with a high fat diet is controversial but we report a positive outcome in a child with cardiomyopathy. A 9-year-old boy with GSDIIIa developed left ventricular hypertrophy at 4.3 years of age. A high-fat (50%), high protein (20%), low-carbohydrates (30%) diet was introduced. After 18 months, echocardiogram, biochemical and clinical parameters improved (Creatine Kinase (CK), 1628➔1125 U/L; left ventricular outflow tract (LVOT), 35➔20 mmHg; interventricular septum (IVS), 21➔10 mm). The diet was abandoned for 2 years resulting in reversal of symptoms, but recommencement showed improvement after 6 months. A high fat, high protein and low carbohydrate diet was successful in reversing cardiomyopathy. This form of treatment should be considered in children with GSD IIIa with cardiomyopathy.
ISSN:2214-4269
2214-4269
DOI:10.1016/j.ymgmr.2022.100904