Bone mineral density in French adults with early-treated phenylketonuria.

Fiche publication

Date publication

janvier 2025

Journal

Molecular genetics and metabolism

Auteurs

Membres identifiés du Cancéropôle Est :
Pr THAUVIN-ROBINET Christel

Tous les auteurs :
Dybal E, Maillot F, Feillet F, Fouilhoux A, Astudillo L, Lavigne C, Arnoux JB, Odent S, Gay C, Schiff M, Mazodier K, Kuster A, Rigalleau V, Thauvin-Robinet C, Leguy-Seguin V, Douillard C, Charrière S

Lien Pubmed

https://www.ncbi.nlm.nih.gov/pubmed/39919675

Résumé

Phenylketonuria (PKU) treatment requires a low-phenylalanine (Phe) diet limiting natural protein intake, using medical low-protein foods and Phe-free amino acids (AA) supplements along with micronutriments' supplies. Current recommendations suggest maintaining this diet for life to prevent neuro-psychological effects of high Phe concentrations. The long-term consequences of such a diet are poorly understood, particularly on bone health. Our study aimed to assess the prevalence of low bone mineral density (BMD) (Z-score ≤ -2, for vertebral and/or femoral site) in adults with PKU and to investigate associated risk factors, in the French ECOPHEN cohort. The study included 171 patients with 67.3 % of women and a median age of 27 years old. The median femoral and vertebral Z-scores of BMD were both - 0.6. Only 11.4 % of patients had a low BMD. Compared to patients with normal BMD, patients with low BMD had a lower body mass index (BMI) (median 20.4 versus 24.4 kg/m, p = 0.002), and were more likely to have never stopped their diet (58.8 % versus 31.8 %, p = 0.029). They also had higher total protein intake (1.1 versus 0.9 g/kg/day, p = 0.015), with more proteins from AA supplements (0.80 vs 0.53 g/kg/day, p = 0.010). In multivariate analysis, younger patients born after 1990 and who never stopped diet had a 4.7 times risk to have low BMD (p = 0.005), after adjustment on age, sex, BMI. In summary, our study identified a subgroup of PKU adult patients with low BMD and showed that prolonged low natural protein diet is associated with low BMD.