Background

Pegvaliase is an enzyme substitution therapy that reduces blood phenylalanine (Phe) in adults with phenylketonuria (PKU), and often allows normalization of protein intake (≥0.8 g protein/kg).

Here we examine the nutrition status of adults with PKU consuming a normal protein intake without medical food after being treated with pegvaliase for ≥1 year.

Methods

A cross-sectional study evaluating nutritional intake (3-day food record and food frequency questionnaire), anthropometrics, laboratory indices of protein, micronutrient, and essential fatty acid (EFA) status, and questionnaires evaluating food neophobia and Epicurean eating pleasure.

Results

Participants (n = 18, 61% female) started pegvaliase 4.9 ± 2.1 years prior to enrollment and were aged 38.2 ± 8.8 years with a mean BMI of 29.2 ± 4.1 kg/m². Participants consumed a mean of 73.2 ± 17.6 g protein/d (1.0 ± 0.3 g/kg/d). Eleven participants had low blood Phe (<30 μmol/L) with adequate protein intake and normal indices of protein status. Micronutrient and EFA concentrations were normal except for mildly low vitamin D (<30 ng/mL, n = 12). Intakes of sodium, saturated fat, and added sugars exceeded recommendations for healthy adults, though mean diet quality was comparable to a US adult reference population. Lower food neophobia scores correlated with an increased aesthetic appreciation of food. However, 53% of participants self-reported having moderate (n = 6) to high (n = 3) food neophobia.

Discussion

Participants treated with pegvaliase consumed an unrestricted diet with adequate dietary protein and, overall, had normal protein, micronutrient, and fatty acid status. Despite low blood Phe, protein nutriture was not compromised. While nutritional deficiencies were not identified, diet quality was suboptimal and some participants reported food neophobia. Nutrition education remains an important component of care as patients adapt to a normal diet.

中文翻译：

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聚乙二醇化酶治疗苯丙酮尿症成人的营养状况

背景

Pegvaliase 是一种酶替代疗法，可降低苯丙酮尿症 (PKU) 成人的血苯丙氨酸 (Phe)，并且通常可使蛋白质摄入量正常化 (≥0.8 g 蛋白质/kg)。

在这里，我们检查了 PKU 成人在接受 pegvaliase 治疗 ≥ 1 年后，在不吃药的情况下摄入正常蛋白质的营养状况。

方法

一项横断面研究评估营养摄入（3 天食物记录和食物频率问卷）、人体测量学、蛋白质、微量营养素和必需脂肪酸 (EFA) 状态的实验室指标，以及评估食物新恐惧症和伊壁鸠鲁饮食乐趣的问卷。

结果

参与者（n = 18，61% 女性）在入组前 4.9 ± 2.1 年开始使用 pegvaliase，年龄为 38.2 ± 8.8 岁，平均 BMI 为 29.2 ± 4.1 kg/m ²。参与者平均消耗 73.2 ± 17.6 g 蛋白质/天（1.0 ± 0.3 g/kg/d）。11 名参与者的血 Phe 低（<30 μmol/L），蛋白质摄入充足，蛋白质状态指标正常。微量营养素和 EFA 浓度正常，但维生素 D 轻度偏低（<30 ng/mL，n= 12)。钠、饱和脂肪和添加糖的摄入量超过了健康成年人的建议，尽管平均饮食质量与美国成年人参考人群相当。较低的食物新恐惧症评分与增加的食物审美欣赏相关。然而，53% 的参与者自我报告有中度 ( n = 6) 到高度 ( n = 3) 的食物新恐惧症。

讨论

接受 pegvaliase 治疗的参与者饮食不受限制，膳食蛋白质充足，总体而言，蛋白质、微量营养素和脂肪酸状态正常。尽管血液 Phe 偏低，但蛋白质营养并未受到影响。虽然没有发现营养缺乏，但饮食质量并不理想，一些参与者报告了食物新恐惧症。随着患者适应正常饮食，营养教育仍然是护理的重要组成部分。