ArticleMolecular genetics and metabolism reports2018
The impact of consanguinity on the frequency of inborn errors of metabolism.
Article in Molecular genetics and metabolism reports, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers, 1 of them a synthesis that pooled it.
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Who cites it
20 citing papers in PubMed, 1 synthesis or guideline pooled it, 40 citations in OpenAlex.
- Presentation and management of N-acetylglutamate synthase deficiency: a review of the literature.Orphanet journal of rare diseases · 2020Pooled it
- Emerging Quantitative Targeted Metabolomics Approaches for Future Inborn Errors of Metabolism Screening.Diagnostics (Basel, Switzerland) · 2026Review
- Refugee children and inherited metabolic disorders: lessons from Türkiye and global implications.Pediatric research · 2026Article
- Unveiling the hidden burden: challenges and spectrum of inborn errors of metabolism in LMICs.Pediatric research · 2026Article
- Pediatric stroke in inborn errors of metabolism: clinical characteristics, neuroimaging features, and short-term outcomes.Frontiers in neurology · 2026Article
- Consanguinity as a Risk Factor for Autism.Journal of autism and developmental disorders · 2025Article
- Knowledge and awareness level of healthcare professional candidate students on inherited metabolic diseases: a cross-sectional study.BMC medical education · 2023Article
- Untargeted Metabolomics Identifies Biomarkers for MCADD Neonates in Dried Blood Spots.International journal of molecular sciences · 2023Article
- A retrospective analysis of MS/MS screening for IEM in high-risk areas.BMC medical genomics · 2023Article
- Moroccan Experience of Targeted Screening for Inborn Errors of Metabolism by Tandem Mass Spectrometry.Pediatric reports · 2023Article
- Genetic Diagnosis in a Cohort of Adult Patients with Inherited Metabolic Diseases: A Single-Center Experience.Biomolecules · 2022Article
- A Case of Consanguinity.Global pediatric health · 2022Article
- Applications of quantitative metabolomics to revolutionize early diagnosis of inborn errors of metabolism in India.Analytical science advances · 2021Review
- Treatable inherited metabolic epilepsies.Neurosciences (Riyadh, Saudi Arabia) · 2021Review
- Incidence of inherited metabolic disorders in southern Israel: a comparison between consanguinity and non-consanguinity communities.Orphanet journal of rare diseases · 2020Article
- Inborn errors of metabolism in the differential diagnosis of fatty liver disease.The Turkish journal of gastroenterology : the official journal of Turkish Society of Gastroenterology · 2020Review
- Article
- Review
- Genetics and genomic medicine in Iran.Molecular genetics & genomic medicine · 2019Article
- Synovial chondromatosis of ankle in a child: A rare presentation.Journal of postgraduate medicineArticle
Corrections and comments
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Authors and funding
3 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Inborn errors of metabolism (IEM) are a heterogeneous group of genetic disorders present in all ethnic groups. We investigated the frequency of consanguinity among parents of newborns with IEM diagnosed by neonatal screening. Data were obtained from 15 years of expanded newborn screening for selected IEM with autosomal recessive mode of inheritance, a national screening program of newborns covering the period from 2002 until April 2017. Among the 838,675 newborns from Denmark, the Faroe Islands and Greenland, a total of 196 newborns had an IEM of whom 155 from Denmark were included in this study. These results were crosschecked against medical records. Information on consanguinity was extracted from medical records and telephone contact with the families. Among ethnic Danes, two cases of consanguinity were identified in 93 families (2.15%). Among ethnic minorities there were 20 cases of consanguinity among 33 families (60.6%). Consequently, consanguinity was 28.2 times more frequent among descendants of other geographic place of origin than Denmark. The frequency of consanguinity was conspicuously high among children of Pakistani, Afghan, Turkish and Arab origin (71.4%). The overall frequency of IEM was 25.5 times higher among children of Pakistani, Turkish, Afghan and Arab origin compared to ethnic Danish children (5.35:10,000 v 0.21:10,000). The frequency of IEM was 30-fold and 50-fold higher among Pakistanis (6.5:10,000) and Afghans (10.6:10,000), respectively, compared to ethnic Danish children. The data indicate a strong association between consanguinity and IEM. These figures could be useful to health professionals providing antenatal, pediatric, and clinical genetic services.
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