Background Türkiye hosts over 3 million Syrian refugees, many from consanguineous communities, increasing the risk of inherited metabolic disorders (IMDs). Early IMD diagnosis is essential but remains challenging in displaced populations with limited access to specialized care. Methods This case-based review combines a systematic synthesis of the published literature with a retrospective case series of Syrian refugee children evaluated for suspected IMDs at a pediatric metabolism clinic in Adana, Türkiye (June 2023–January 2024). Demographic, clinical, and diagnostic data were analyzed. Results Of 3095 children evaluated, 303 were Syrian, and 27 (8.9%) were diagnosed with IMDs. Consanguinity was present in 92.6% of cases. The median diagnostic delay was 8 months. Common clinical features included developmental delay and seizures. Diagnoses most frequently involved amino acid and carbohydrate metabolism disorders. Although responses to dietary and cofactor therapy were generally favorable, systemic barriers, such as limited newborn screening, language obstacles, and poor follow-up, were prevalent. Conclusion By integrating original clinical data with systematically reviewed evidence, this study underscores the disproportionate burden of IMDs in refugee children and the cross-national consistency of diagnostic delays and healthcare access barriers. Targeted interventions, including expanded newborn screening panels, interpreter services, and culturally adapted educational resources, are critically needed to improve early diagnosis and long-term outcomes in displaced populations. Impact <UnorderedList Mark="Bullet"> <ItemContent> Syrian refugee children referred to pediatric metabolism clinics with suspected IMDs show a high diagnostic yield, likely influenced by high rates of consanguinity within this clinically selected cohort. </ItemContent> <ItemContent> Many children experience prolonged delays in IMD diagnosis, with a median time of 8 months from symptom onset to clinic presentation, highlighting the need for more accessible and timely diagnostic services. </ItemContent> <ItemContent> Substantial healthcare access barriers, including language and financial constraints, limit follow-up and treatment adherence. </ItemContent> <ItemContent> Findings underline the need for improved diagnostic support and culturally tailored healthcare services, and support consideration of expanded newborn screening strategies for Syrian refugee children evaluated for IMDs. </ItemContent> </UnorderedList>

Refugee children and inherited metabolic disorders: lessons from Türkiye and global implications

期刊论文
发表日期：

2026年4月24日

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Merve Yoldaş Çelik,
Burcu Köşeci

摘要

Background

Türkiye hosts over 3 million Syrian refugees, many from consanguineous communities, increasing the risk of inherited metabolic disorders (IMDs). Early IMD diagnosis is essential but remains challenging in displaced populations with limited access to specialized care.

Methods

This case-based review combines a systematic synthesis of the published literature with a retrospective case series of Syrian refugee children evaluated for suspected IMDs at a pediatric metabolism clinic in Adana, Türkiye (June 2023–January 2024). Demographic, clinical, and diagnostic data were analyzed.

Results

Of 3095 children evaluated, 303 were Syrian, and 27 (8.9%) were diagnosed with IMDs. Consanguinity was present in 92.6% of cases. The median diagnostic delay was 8 months. Common clinical features included developmental delay and seizures. Diagnoses most frequently involved amino acid and carbohydrate metabolism disorders. Although responses to dietary and cofactor therapy were generally favorable, systemic barriers, such as limited newborn screening, language obstacles, and poor follow-up, were prevalent.

Conclusion

By integrating original clinical data with systematically reviewed evidence, this study underscores the disproportionate burden of IMDs in refugee children and the cross-national consistency of diagnostic delays and healthcare access barriers. Targeted interventions, including expanded newborn screening panels, interpreter services, and culturally adapted educational resources, are critically needed to improve early diagnosis and long-term outcomes in displaced populations.

Impact

Syrian refugee children referred to pediatric metabolism clinics with suspected IMDs show a high diagnostic yield, likely influenced by high rates of consanguinity within this clinically selected cohort.

Many children experience prolonged delays in IMD diagnosis, with a median time of 8 months from symptom onset to clinic presentation, highlighting the need for more accessible and timely diagnostic services.

Substantial healthcare access barriers, including language and financial constraints, limit follow-up and treatment adherence.

Findings underline the need for improved diagnostic support and culturally tailored healthcare services, and support consideration of expanded newborn screening strategies for Syrian refugee children evaluated for IMDs.