Low bone mineral density in rare metabolic disorders: data from a Turkish cohort of patients with glycogen storage disorders and organic acidemias

Objective: To evaluate bone mineral density (BMD) and the nutritional and biochemical factors affecting it in children with glycogen storage diseases (GSD) and organic acidemias (OA), which are rare metabolic disorders. Methods: This retrospective study included 31 pediatric patients with genetically confirmed diagnoses—15 with GSD (types I and III) and 16 with OA (methylmalonic and propionic acidemia). BMD was assessed using dual-energy X-ray absorptiometry (DXA) and reported as age-adjusted Z-scores. Anthropometric data, three-day dietary records (analyzed with BeBIS 8.2), and serum markers, including vitamin D, Parathyroid Hormone (PTH), calcium, phosphorus, and others, were analyzed. Malnutrition and stunting were defined using World Health Organization (WHO) growth standards. Pearson correlation analysis was used, with a significance level set at p30 ng/mL) achieved in only 20% of GSD and 31.2% of OA patients. Conclusion: Low bone mineral density is prevalent in both GSD and OA populations and appears to be influenced by modifiable factors such as calcium intake and vitamin D status. These findings highlight the importance of routine monitoring of bone health and nutrition in these patients. Multidisciplinary management is crucial for reducing long-term skeletal risks and optimizing clinical outcomes.