Kumru Akin Burcu, Ozturk Hismi Burcu, Daly Anne
Division of Nutrition and Diet, Gaziantep Cengiz Gökçek Maternity and Children's Hospital, Gaziantep, Turkey.
Division of Pediatric Metabolic Disorders and Nutrition, Marmara University School of Medicine, Istanbul, Turkey.
Mol Genet Metab Rep. 2022 Aug 1;32:100904. doi: 10.1016/j.ymgmr.2022.100904. eCollection 2022 Sep.
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.
IIIa型和IIIb型糖原贮积病（GSDIII）是罕见的遗传性代谢紊乱疾病，由糖原脱支酶缺乏引起，导致肌肉中异常糖原（“极限糊精”）蓄积。极限糊精在心脏中的蓄积会引发一种类似于原发性肥厚型心肌病的心肌病。高脂饮食治疗存在争议，但我们报告了一名患有心肌病的儿童取得了积极疗效。
一名患有IIIa型GSDIII的9岁男孩在4.3岁时出现左心室肥厚。开始采用高脂（50%）、高蛋白（20%）、低碳水化合物（30%）饮食。18个月后，超声心动图、生化和临床参数得到改善（肌酸激酶（CK），从1628降至1125 U/L；左心室流出道（LVOT），从35降至20 mmHg；室间隔（IVS），从21降至10 mm）。该饮食停用2年导致症状复发，但重新开始6个月后症状又有所改善。
高脂、高蛋白和低碳水化合物饮食成功逆转了心肌病。对于患有IIIa型GSDIII且伴有心肌病的儿童，应考虑这种治疗方式。
