Body composition in patients with hepatic glycogen storage diseases

•Elevated fat mass was frequent in a sample of Brazilian patients with hepatic glycogen storage disorders (GSDs)•Uncooked cornstarch therapy was associated with excess weight in hepatic GSDs•Uncooked cornstarch therapy can entail a decrease in lean mass in hepatic GSDs•A strict nutritional evaluation is necessary for patients with hepatic GSDs•Further studies are needed to evaluate the use of dual energy x-ray absorptiometry in patients with hepatic GSDs The present study aimed to evaluate the body composition of hepatic glycogen storage disorders (GSDs) through dual energy x-ray absorptiometry. This was an exploratory, observational, cross-sectional study. Twenty-four patients with GSD (type Ia: n = 13, Ib: n = 5, III: n = 2, and IX-α/β/γ: n = 4; female sex: n = 13; age 19 y: n = 7) were included. Three-day dietary records were collected in the week preceding dual energy x-ray absorptiometry. Body composition findings were correlated with clinical parameters, uncooked cornstarch (UCCS) regimen, dietary intake, and markers of treatment adherence. An elevated fat mass (FM) index was found in 16 of 21 patients (age 8–19 y: n = 10 and >19 y: n = 6; GSD type Ia: n = 12, Ib: n = 2, III: n = 1, and IX-γ: n = 1). A lean mass (LM) index evaluation showed no LM deficits in relation to corresponding reference populations. Relative skeletal muscle index values were decreased in 2 of 7 adult patients (type Ib: n = 1 and IX-α: n = 1). UCCS (g/d) correlated positively with the FM index (rs = 0.7; P ≤ 0.01). In contrast, relative UCCS intake (g/kg body weight) was negatively associated with LM/kg (rs = –0.8; P ≤ 0.01). These findings suggest a high frequency of elevated FM in patients with hepatic GSDs. We also suggest that treatment with UCCS is associated with excess weight in these patients. Additionally, the treatment strategy can impair protein intake, and lead to a decrease in LM.