Universidade Federal da Bahia, Salvador, BA, Brazil.
Universidade do Estado da Bahia, Salvador, BA, Brazil.
Rev Paul Pediatr. 2021 Feb 24;39:e2020095. doi: 10.1590/1984-0462/2021/39/2020095. eCollection 2021.
To characterize metabolic control and verify whether it has any relation with socioeconomic, demographic, and body composition variables in children and adolescents with phenylketonuria (PKU) diagnosed in the neonatal period.
This cohort study collected retrospective data of 53 phenylketonuric children and adolescents. Data on family income, housing, and mother's age and schooling level were collected, and anthropometric measures of body composition and distribution were taken. All dosages of phenylalanine (Phe) from the last five years (2015-2019) were evaluated and classified regarding their adequacy (cutoffs: 0-12 years: 2-6 mg/dL; 12-19 years: 2-10 mg/dL). Adequate metabolic control was considered if ≥7%) of the dosages were within desired ranges.
The mean (±standard deviation) age in the last year was 10.1±4.6 years. Most of them were under 12 years old (33/53; 62.3%) and had the classic form of the disease (39/53; 73.6%). Better metabolic control was observed among adolescents (68.4 versus 51.4%; p=0.019). Overweight was found in 9/53 (17%) and higher serum Phe levels (p<0.001) were found in this group of patients. Metabolic control with 70% or more Phe level adequacy decreased along with the arm muscle area (AMA) (ptendency=0.042), being 70.0% among those with low reserve (low AMA), and 18.5% among those with excessive reserve (high AMA).
Adequate metabolic control was observed in most patients. The findings suggest that, in this sample, the levels of phenylalanine may be related to changes in body composition.
描述新生儿期诊断为苯丙酮尿症（PKU）的儿童和青少年的代谢控制情况，并验证其与社会经济、人口统计学和身体成分变量之间的关系。
本队列研究收集了 53 名苯丙酮尿症儿童和青少年的回顾性数据。收集了家庭收入、住房以及母亲年龄和受教育程度的数据，并进行了身体成分和分布的人体测量学测量。评估了过去五年（2015-2019 年）的所有苯丙氨酸（Phe）剂量，并根据其充足性进行分类（切点：0-12 岁：2-6mg/dL；12-19 岁：2-10mg/dL）。如果≥7%的剂量在理想范围内，则认为代谢控制充足。
最后一年的平均（±标准差）年龄为 10.1±4.6 岁。他们大多数（33/53；62.3%）年龄在 12 岁以下，且患有经典型疾病（39/53；73.6%）。青少年的代谢控制更好（68.4%比 51.4%；p=0.019）。53 例患者中有 9 例（17%）超重，且该组患者的血清 Phe 水平较高（p<0.001）。随着臂肌区（AMA）的减少，70%或更多的 Phe 水平充足率降低（趋势=0.042），低储备（低 AMA）者为 70.0%，高储备（高 AMA）者为 18.5%。
大多数患者的代谢控制充足。研究结果表明，在该样本中，苯丙氨酸水平可能与身体成分的变化有关。
