The relationship between serum phenylalanine levels, genotype, and developmental assessment test results in non-phenylketonuria mild hyperphenylalaninemia patients

被引：0

作者：

Ilguy, Muge ^{[1
]}

Yildirim, Gonca Kilic ^{[2
]}

Eyuboglu, Damla ^{[3
]}

Carman, Kursat Bora ^{[4
]}

Yarar, Coskun ^{[4
]}

机构：

[1] Ondokuz Mayis Univ, Div Child Endocrinol, Dept Pediat, Fac Med, Samsun, Turkiye

[2] Eskisehir Osmangazi Univ, Div Child Nutr & Metab, Dept Paediat, Fac Med, Eskisehir, Turkiye

[3] Eskisehir Osmangazi Univ, Dept Child & Adolescent Mental Hlth & Dis, Fac Med, Eskisehir, Turkiye

[4] Eskisehir Osmangazi Univ, Div Child Neurol, Dept Paediat, Fac Med, Eskisehir, Turkiye

来源：

EUROPEAN JOURNAL OF PEDIATRICS | 2024年 / 184卷 / 01期

关键词：

Non-PKU mild hyperphenylalaninemia; Electroencephalogram; Ankara Developmental Screening Inventory; Denver Developmental Screening Test-II; REVISION;

D O I：

10.1007/s00431-024-05929-1

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

Phenylalanine (PA) levels below 360 mu mol/L do not require treatment; however, cognitive deficits have been observed in patients with elevated PA levels, necessitating a safe upper limit for treatment and therapeutic objectives. The main purpose of this study is to evaluate the correlation between developmental assessments (Denver Developmental Screening Test-II [DDST-II] and Ankara Developmental Screening Inventory [ADSI]) and electroencephalogram (EEG) findings with blood PA levels and genotypic data in non-phenylketonuria mild Hyperphenylalaninemia (HPA) patients, to re-evaluate their treatment status based on potential adverse outcomes. This study encompassed 40 patients aged 1-5 years diagnosed with HPA and not on treatment, identified through initial blood PA levels, and monitored for a minimum of 1 year on an unrestricted diet. Data on demographics, serum PA levels during presentation and follow-up, and genetic mutations were retrieved from hospital records. Patients were categorized into two groups as well-controlled (120-240 mu mol/L) and at-risk (240-360 mu mol/L) based on average PA levels. Sleep-activated EEGs and developmental assessments using the DDST-II and ADSI were conducted to compare outcomes with PA levels and genetic findings. Developmental delays in the DDST-II were observed across language, gross motor, fine motor, and personal-social domains, predominantly in males. No significant difference in delays was noted between the well-controlled and at-risk groups based on PA levels. The ADSI revealed delays in similar developmental areas, with fine motor skills being particularly prominently affected in the at-risk group. Only a well-controlled patient showed abnormal EEG results deemed unrelated to HPA. Conclusion: Our findings indicate that children with untreated PA levels above 240 mu mol/L are particularly susceptible to fine motor skill impairments, suggesting a need to reassess the PA level thresholds for initiating treatment. This study highlights the potential requirement for amending current guidelines to ensure early and appropriate intervention in non-PKU mild HPA patients, thereby mitigating the risk of developmental delays.

引用

页数：10