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A comprehensive integrated disease management program for phenylketonuria (IDMP-PKU) from Türkiye: rationale, design
Mehmet Cihan Balci1, Deniz Kor2, Yilmaz Yildiz3
1Division of Pediatric Nutrition and Metabolism, Istanbul Medical Faculty, Children's Hospital, Istanbul University, Turgut Ozal Millet Cd, Fatih, 34093, Istanbul, Türkiye. mehmetcbalci@hotmail.com.
Insights
Phenylketonuria (PKU) diagnosis improved with national newborn screening in Türkiye, but delays persist, especially with low maternal education. Consanguinity is linked to higher homozygous mutations, highlighting the need for awareness and genetic counseling.
Area of Science:
- Medical Genetics
- Pediatric Metabolic Disorders
- Public Health Initiatives
Background:
- Phenylketonuria (PKU) is an autosomal recessive disorder caused by phenylalanine hydroxylase deficiency, necessitating early diagnosis and treatment for optimal outcomes.
- The IDMP-PKU study aims to understand the patient journey and identify unmet needs in PKU diagnosis, treatment, and follow-up in Türkiye.
Purpose of the Study:
- To present the rationale and design of the IDMP-PKU study.
- To report interim analysis findings on demographics, diagnosis, family history, and genetic data of 1553 enrolled children.
Main Methods:
- Multicenter, observational, registry-based study in 3 tertiary pediatric metabolic clinics in Türkiye.
- Descriptive analysis of baseline demographic, diagnosis, family history, and genetic testing data.
Main Results:
- 1,553 patients diagnosed between 1981-2022 across Türkiye; 37.1% had classical PKU.
- Parental consanguinity reported in 43.5% of families; c.1066-11G>A was the most frequent variant (22.8%).
- Median diagnostic time improved to 21 days post-NBS implementation (Dec 2006), but 28.6% diagnosed after one month; low maternal education correlated with diagnostic delays.
Conclusions:
- National newborn screening (NBS) has improved early PKU identification in Türkiye.
- Expanding screening labs and metabolic clinics can further expedite diagnosis and treatment initiation.
- Public awareness and pre-marital genetic counseling are crucial for reducing PKU prevalence in populations with high consanguinity rates.
Background:
Phenylketonuria is an autosomal recessive disorder characterized by the deficiency of phenylalanine hydroxylase, which converts phenylalanine into tyrosine. Diagnosis and prompt initiation of appropriate treatment shortly after birth are important for achieving optimal outcomes in phenylketonuria. IDMP-PKU is an ongoing study to gain insight into the patient journey and identify the unmet needs and areas for improvement in diagnosis, treatment, and follow-up of PKU in Türkiye.
Aim:
To present the rationale and design of the IDMP-PKU study, as well as the findings from an interim analysis, describing baseline demographic, diagnosis, family history, and genetic testing data for 1553 children enrolled in the study.
Method:
This is a multicenter, observational registry-based study, conducted in 3 tertiary pediatric metabolic clinics in Türkiye. The study provides a descriptive analysis of baseline demographic, diagnosis, family history, and genetic testing data of study population.
Results:
The study included 1,553 patients (median age: 10 (IQR 5-18) years; 37.1% classical PKU) from 90% of the cities in Türkiye, diagnosed between 1981 and 2022. Parental consanguinity was reported in 43.5% of families (27.1% first cousins). The most frequently detected allelic variant was c.1066-11G > A (IVS-10-11G > A) (22.8%). Homozygous mutations were more common in patients with parental consanguinity (76.8% vs 17.1%; p < 0.001). The median time to diagnosis improved to 21 days after the implementation of the national newborn screening (NBS) program in December 2006 but 28.6% of patients were diagnosed after one month of age. Low level of maternal education was associated with longer time to diagnosis (p < 0.001).
Conclusions:
Implementation of national NBS has contributed to earlier identification of patients with PKU. Increasing the number of screening laboratories and pediatric metabolic clinics will speed up the diagnostic process and help achieve the guideline-recommended time for diagnosis and initiation of treatment. In countries with high rates of consanguineous marriages, increasing public awareness of PKU and genetic counselling before marriage will be valuable in reducing the prevalence of PKU.
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