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

Akin B. K., ÖZTÜRK HİŞMİ B., Daly A.

MOLECULAR GENETICS AND METABOLISM REPORTS, cilt.32, 2022 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 32
  • Basım Tarihi: 2022
  • Doi Numarası: 10.1016/j.ymgmr.2022.100904
  • Dergi Adı: MOLECULAR GENETICS AND METABOLISM REPORTS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, EMBASE, Directory of Open Access Journals
  • Anahtar Kelimeler: Glycogen storage disease type III, Hypertrophic cardiomyopathy, Diet therapy, MANAGEMENT, DIAGNOSIS, LIVER
  • Marmara Üniversitesi Adresli: Evet

Özet

Background: 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. Case presentation: 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, echocar-diogram, 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. Conclusion: 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.