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. 2021 Aug 27;13(9):2987.
doi: 10.3390/nu13092987.

Bone Mineral Density in Patients with Hepatic Glycogen Storage Diseases

Jésica Tamara Jacoby  1 , Bruna Bento Dos Santos  2 , Tatiele Nalin  3   4 , Karina Colonetti  2   3 , Lília Farret Refosco  5   6 , Carolina F M de Souza  5   6 , Poli Mara Spritzer  7   8 , Soraia Poloni  3 , Roberta Hack-Mendes  9 , Ida Vanessa Doederlein Schwartz  1   2   5   6   10
Affiliations

Bone Mineral Density in Patients with Hepatic Glycogen Storage Diseases

Jésica Tamara Jacoby et al. Nutrients. .

Abstract

The association between bone mineral density (BMD) and hepatic glycogen storage diseases (GSDs) is still unclear. To evaluate the BMD of patients with GSD I, IIIa and IXα, a cross-sectional study was performed, including 23 patients (GSD Ia = 13, Ib = 5, IIIa = 2 and IXα = 3; median age = 11.9 years; IQ = 10.9-20.1) who underwent a dual-energy X-ray absorptiometry (DXA). Osteocalcin (OC, n = 18), procollagen type 1 N-terminal propeptide (P1NP, n = 19), collagen type 1 C-terminal telopeptide (CTX, n = 18) and 25-OH Vitamin D (n = 23) were also measured. The participants completed a 3-day food diary (n = 20). Low BMD was defined as a Z-score ≤ -2.0. All participants were receiving uncooked cornstarch (median dosage = 6.3 g/kg/day) at inclusion, and 11 (47.8%) presented good metabolic control. Three (13%) patients (GSD Ia = 1, with poor metabolic control; IIIa = 2, both with high CPK levels) had a BMD ≤ -2.0. CTX, OC and P1NP correlated negatively with body weight and age. 25-OH Vitamin D concentration was decreased in seven (30.4%) patients. Our data suggest that patients with hepatic GSDs may have low BMD, especially in the presence of muscular involvement and poor metabolic control. Systematic nutritional monitoring of these patients is essential.

Keywords: GSD; bone; bone mineral density; glycogen storage disease; osteocalcin; photon absorptiometry.

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Conflict of interest statement

Tatiele Nalin is employee of Ultragenyx Brasil Farmacêutica LTDA and hold stock in Ultragenyx Pharmaceutical Inc.

Figures

Figure 1
Figure 1
Adequacy of dietary and supplemental intake of nutrients essential for bone metabolism. (A) Data for Glycogenosis Ia (n = 11) and Ib (n = 5) patients. (B) Data for Glycogenosis IIIa (n = 1) and IXα (n = 3) patients. Three patients did not complete the food diary. Data expressed as median; adequacy expressed as % of RDA or * AI. Data obtained through food record; adequacy according to GSD treatment guidelines (for protein) and DRI tables (all other nutrients).
Figure 1
Figure 1
Adequacy of dietary and supplemental intake of nutrients essential for bone metabolism. (A) Data for Glycogenosis Ia (n = 11) and Ib (n = 5) patients. (B) Data for Glycogenosis IIIa (n = 1) and IXα (n = 3) patients. Three patients did not complete the food diary. Data expressed as median; adequacy expressed as % of RDA or * AI. Data obtained through food record; adequacy according to GSD treatment guidelines (for protein) and DRI tables (all other nutrients).
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