Print page Print page
Switch language
The Capital Region of Denmark - a part of Copenhagen University Hospital

The impact of consanguinity on the frequency of inborn errors of metabolism

Research output: Contribution to journalJournal articleResearchpeer-review

  1. Treatment of monogenic disorders with viral transduced haematopoietic stem cells

    Research output: Contribution to journalJournal articleResearchpeer-review

  2. The SPARKLE registry: protocol for an international prospective cohort study in patients with alpha-mannosidosis

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. Long-term effects of medical management on growth and weight in individuals with urea cycle disorders

    Research output: Contribution to journalJournal articleResearchpeer-review

View graph of relations

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.

Original languageEnglish
JournalMolecular Genetics and Metabolism Reports
Pages (from-to)6-10
Number of pages5
Publication statusPublished - Jun 2018

    Research areas

  • Journal Article

ID: 52804289