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PP-056 Evaluation of micronutrients in patients with phenylketonuria
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  1. Tuğçe Aras Çöl1,
  2. Melike Ersoy2
  1. 1İstanbul Kanuni Sultan Süleyman Training and Research Hospital
  2. 2Bakırköy Dr Sadi Konuk Training and Research Hospital

Abstract

Aim The aim of this study was to contribute to the management of metabolic diseases by evaluating the development and micronutrient levels of patients diagnosed with hyperphenylalaninemia and phenylketonuria who received treatment and follow-up.

Material and Method This is a retrospective descriptive study conducted with the approval of the Istanbul Dr. Sadi Konuk Training Research Hospital Ethics Committee. The study was conducted at the İstanbul Dr. Sadi Konuk Training and Research Hospital between 01.11.2022 and 01.05.2023. Medical records of patients who were diagnosed with phenylketonuria and received outpatient or inpatient treatment at the Child Metabolism Clinic of Istanbul Dr. Sadi Konuk Training and Research Hospital between 01.01.2015 and 31.09.2022 were retrospectively reviewed. The clinical findings, anthropometric measurements, laboratory findings and treatment methods of the patients were evaluated. The study recorded the patients gender, date of application, date of birth, age at the time of application, reason for application, phenylalanine levels at the time of application, phenylalanine levels during follow-up, treatment received, treatment compliance, consanguinity, and sibling history, physical examination findings, anthropometric measurements and laboratory values.

Results There was no significant difference in growth, development, or micronutrient levels between the diagnostic and treatment groups (figure 1, table 1). This result is associated with adherence to established standards in clinical and blood level monitoring through follow-up and treatment. Early diagnosis and the selection of an appropriate treatment protocol, along with frequent patient monitoring, are essential for ensuring appropriate development compared to peers.

Abstract PP-056 Figure 1

Treatment status.

Abstract PP-056 Table 1

Weight, height, and head circumference SDS of the treatment groups

Conclusions The fact that there is no difference in the growth, development and micronutrient levels of the patients according to the diagnosis type and treatment protocols in the follow-up of hyperphenylalaninemia is a result of the success of the follow-up. In particular, monitoring blood PA levels, diet and micronutrient deficiencies in patients receiving diet therapy enabled them to have similar physical and neurocognitive development as their healthy peers.

  • hyperphenylalaninemi
  • phenylketonuria
  • micronutrient
  • tetrahydrobiopterin
  • development

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