Impact on diet quality and dietary burden of sapropterin dihydrochloride use in children with phenylketonuria: a 6 months follow-up report

• Autor(a) principal: Gama, Maria Inês Ferreira da Rocha
• Data de Publicação: 2023
• Tipo de documento: Dissertação
• Idioma: eng
• Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
• Texto Completo: http://hdl.handle.net/10362/162747
• topic: Sapropterin; Food Patterns; Burden of care; Phenylketonuria; Ciências Médicas

Abstract Introduction: Adjuvant treatments in Phenylketonuria (PKU), such as sapropterin dihydrochloride, aim to increase natural protein tolerance and/or ameliorate blood phenylalanine (Phe) levels in a subset of patients. Changes in feeding patterns and behaviors in sapropterin-responsive populations have not been widely reported in the literature. Our aim was to assess changes in food quality, mental health and burden of care in a PKU sapropterin-responsive cohort. Methods: In an observational, longitudinal study, questionnaires on food frequency, neophobia, anxiety and depression, impact on family and burden of care were applied to patients at baseline, 3- months and 6-months after sapropterin-responsiveness testing. Data on growth, nutritional intake and metabolic control were collected at all time-points. Results: 17 children (10.8 ± 4.2 years) reached the 6-months follow-up assessment. Patients body mass index (BMI) z-scores remained similar after drug initiation, while increasing natural protein (p = <0.001) and reducing protein substitute intake (p = 0.002). Blood Phe control was kept stable throughout the study (p = 0.731). Increases in regular cow’s milk (p = 0.001), meat/fish and eggs (p = 0.005), bread (p = 0.01) and pasta (p = 0.011) were seen, while decreasing intake of low-protein milk (p = 0.007), low-protein bread (p = 0.028) and low-protein pasta (p = <0.001). Anxiety (p = 0.016) and depression (p = 0.022) were significantly decreased in caregivers. As for impact on family, differences were observed for familial-social (p = 0.002) and personal strain (p = 0.001) subsets. On burden of care, the majority of caregivers considered dietary management to be easier but still restrictive. Before drug treatment more time was spent on PKU related tasks, but this decreased with time. Around half of caregivers spent more money on food shopping and the majority went out for meals more regularly. Fewer caregivers had to deny food choices on a daily basis to their children after 6-months on the drug. Conclusion: There were significant positive changes in food patterns, behaviors, and alleviation of burden of care in children with PKU and their families after 6-months on sapropterin treatment.