Vitamin status in children with hepatic forms of glycogen storage disease

I.V. Prokhorova¹, T.V. Strokova^1,2, V.M. Kodentsova¹, A.G. Surkov¹, M.E. Bagaeva^1,2, E.V. Pavlovskaya¹, N.N. Taran^1,2, A.I. Zubovich¹, E.A. Vasilieva¹

¹Federal Research Center of Nutrition, Biotechnology and Food Safety, Moscow

²Pirogov Russian National Research Medical University, Moscow

Aim: to evaluate vitamin status in children with hepatic forms of glycogen storage disease (GSD).

Patients and Methods: 81 children (55 boys and 26 girls) with a confirmed GSD diagnosis were observed. The median age was 5.0 [2.3; 8.5] years old. 24.7% of patients had type I disease (n=20), 18% — type III (n=15), 57% — types VI–X (n=46). All patients underwent vitamin status assessment with vitamin D, E, C, B₂, В₆, B₁₂, PP, and folic acid determination.

Results: vitamin deficiency was found in 94% of patients with GSD. Combined deficiency of two vitamins was found in 81% of cases, whereas of three or more vitamins — in 56%. The study showed normal levels of vitamins C, B12 and folic acid, a decrease in riboflavin concentration in serum (46%) and its urinary excretion (45%), pyridoxine (in 76% of patients) and niacin (in 90% of cases) metabolites level normalization in total patient’s group and depending on the disease type. Significantly lower values of 1-methylnicotinamide were registered in type I GSD compared to type III (p=0.0139) and types VI–IX GSD (p=0.0147). Riboflavin levels in serum (p=0.0158) and in urinary excretion (p=0.0009) were significantly lower in type I GSD compared to types VI–IX disease. A decrease in the vitamin D concentr ation was registered in 78% of patients with hepatic forms of GSD. A direct correlation was found between the decrease in bone mineral density and vitamin D low concentrations in the total patient’s group (r=0.4764, p=0.0022). The increase in the vitamin E content was noted in 43% cases among patients with GSD. These changes correlated with triglycerides high level in plasma (r=0.2956, p=0.0207).

Conclusion: the data obtained reflect the high frequency of multivitamin deficiency, vitamin D deficiency, increased vitamin E concentration in children with hepatic forms of GSD. Typical differences in the riboflavin and 1-methylnicotinamide supply were revealed. The results indicate the need for timely correction and individual approach to improve the patient’s life quality and prevent long-term complications of the underlying disease.

Keywords: glycogen storage disease, hypoglycemia, vitamin deficiency, vitamin status, children.

For citation: Prokhorova I.V., Strokova T.V., Kodentsova V.M. et al. Vitamin status in children with hepatic forms of glycogen storage disease. RMJ. 2019;5:14–19.