Expanded newborn screening for inborn errors of metabolism in Isfahan Province: the first two-year report from Central Iran
In brief
Expanded screening found 48 metabolic disorders among 71,004 Isfahan newborns
Over two years, screening for 50 disorders confirmed 48 cases, a prevalence of 67.6 per 100,000 births. Consanguinity was reported in 56.3% of cases and was associated with about twice the risk; all deaths occurred among infants with organic acid disorders. The findings support expanded screening locally, but may not reflect rates elsewhere.
- Journal
- Orphanet journal of rare diseases (Q1)
- Published
- 8 August 2026
- Study design
- Cross-sectional study
- Evidence level
- Level 3, Low (CEBM 3b)
- Authors
- Amir Masoud Mohajeri, Mehrshad Safaeian, Mohammad Shahpiri, Mohsen Akbari Dehkordi, Mehrdad Zeinalian
- PMID
- 42989355
- DOI
- 10.1186/s13023-026-04539-4
Why clinicians should know about it
- Picked for Biochemistry (medical) (top studies of the week, 8 November 2026): Expanded newborn screening by tandem mass spectrometry identifies inborn errors
- Picked for Genetics (clinical) (top studies of the week, 8 November 2026): Newborn metabolic screening detects rare, potentially actionable disorders
Abstract
BACKGROUND: Inborn errors of metabolism cause significant infant morbidity and mortality. Birth prevalence is elevated in the Eastern Mediterranean region, influenced by consanguinity. This study presents the first findings of an expanded newborn screening program for IEMs in Isfahan Province, Central Iran. In this cross-sectional study (2023-2025), 71,004 neonates were screened via tandem mass spectrometry (MS/MS) of dried blood spots for 50 metabolic disorders. Positive cases underwent confirmatory testing. Data on demographics and consanguinity were analyzed. RESULTS: From 71,004 newborns, 48 cases were confirmed, corresponding to a prevalence of 67.6 per 100,000 live births, including organic acid, amino acid, and fatty acid oxidation disorders. The most frequent disorders included Short-chain acyl-CoA dehydrogenase (SCAD) deficiency, benign hyperphenylalaninemia (HPA), and 2-Methylbutyryl-CoA dehydrogenase (SBCAD) and 3-Methylcrotonyl-CoA carboxylase (3MCC) deficiencies. Consanguinity was a major risk factor, present in 56.3% of cases (Relative Risk = 2.05). All mortality (10.4%) occurred in the organic acid disorder group. Birth prevalence was highest in smaller towns (e.g., Khansar: 384.6/100,000). CONCLUSION: The high prevalence of IEMs in Isfahan, linked to consanguinity and a distinct disorder profile, underscores the critical importance of expanded NBS. The findings advocate for integrated public health strategies, including genetic counseling and targeted screening, to reduce the disease burden in this region.
Abstract as published, via PubMed.
For healthcare professionals. The summary is generated by AI from the published abstract, and the evidence level is assigned automatically from the study design on the Oxford CEBM hierarchy. Neither is medical advice. Read the full paper before changing practice.