Nutritional management and geno-phenotyping of clinical nutrition in patients with glycogen storage diseases type VI and IX
Makaleler > Tam Makale · 2025
Yazarlar: Sema KALKAN UÇAR, Alperen Elek, Havva YAZICI, Yasemin Hande ATİK ALTINOK, Ayşe Yüksel Yanbolu, Fehime Erdem, Merve YOLDAŞ ÇELİK, Ayça AYKUT, Asude DURMAZ, Ebru Canda, Mahmut ÇOKER
EUROPEAN JOURNAL OF CLINICAL NUTRITION, SCI Expanded İndekslerine Giren Dergi, Uluslararası, Scopus, 2025, ss 285-285
DOI: 10.1038/s41430-025-01614-0
Özet
Background/Objectives: Glycogen storage diseases type VI (GSD-VI) and type IX (GSD-IX) are rare inherited metabolic disorders caused by enzyme deficiencies that disrupt glycogen metabolism. The aim of this study was to analyze the clinical features, nutritional management and geno-phenotyping of clinical nutrition in a cohort of patients with GSD-VI and GSD-IX. Subjects/Methods: A retrospective cohort study was conducted with 16 patients with GSD-VI and GSD-IX. Demographic characteristics, clinical and laboratory findings, and nutritional treatment outcomes were collected and analyzed. Results: The mean patient age was 10.57 years (±4.81). The distribution of the diagnoses was as follows: GSD-IXa (3), GSD-IXb (6), GSD-IXc (1), and GSD-VI (6). The average age at diagnosis was 36.5 months (±42.2) (13–114 months) in the GSD-VI group. Among the GSD-IX subgroups, the mean age at diagnosis varied: 23.3months (±4.16) for GSD-IXa, 35.7months (±17.5) for GSD-IXb, and 78months for GSD-IXc. Over the course of the study (4.5 ± 1.77 years), protein intake in GSD VI patients increased by 1.05 g/kg/day (91.3% increase), while in GSD IX patients, it rose by 1.09 g/kg/day (94% rise). Uncooked cornstarch (UCS) started at 1 g/kg/day for GSD-VI and 0.85 g/kg/day for GSD-IX, later reduced to 0.71 g/kg/day (29% decrease) and 0.52 g/kg/day (60% reduction), respectively. Conclusion: Overall, this paper provides valuable insights into managing GSDVI and GSDIX patients, emphasizing the role of a high-protein diet aligned with the disease’s pathophysiology and the potential of genotyping to enhance nutritional treatment protocols.