ArticleJournal of medical genetics1998
A comparison of disease and gene frequencies of inborn errors of metabolism among different ethnic groups in the West Midlands, UK.
Article in Journal of medical genetics, 1998. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers, 1 of them a synthesis that pooled it.
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Who cites it
21 citing papers in PubMed, 1 synthesis or guideline pooled it, 66 citations in OpenAlex.
- Epidemiology of Sanfilippo syndrome: results of a systematic literature review.Orphanet journal of rare diseases · 2018Pooled it
- Description and Cross-Sectional Analyses of 25,880 Adults and Children in the UK National Registry of Rare Kidney Diseases Cohort.Kidney international reports · 2024Article
- Fetal therapies and trials for lysosomal storage diseases: a survey of attitudes of parents and patients.Orphanet journal of rare diseases · 2022Article
- Genetic Landscape of Nephropathic Cystinosis in Russian Children.Frontiers in genetics · 2022Article
- Case Report: Cystinosis in a Chinese Child With a Novel CTNS Pathogenic Variant.Frontiers in pediatrics · 2022Article
- Nephropathic cystinosis: an update on genetic conditioning.Pediatric nephrology (Berlin, Germany) · 2021Review
- A Great Catch for Investigating Inborn Errors of Metabolism-Insights Obtained from Zebrafish.Biomolecules · 2020Review
- CTNS mRNA molecular analysis revealed a novel mutation in a child with infantile nephropathic cystinosis: a case report.BMC nephrology · 2019Article
- The impact of consanguinity on the frequency of inborn errors of metabolism.Molecular genetics and metabolism reports · 2018Article
- Primary hyperoxaluria in populations of Pakistan origin: results from a literature review and two major registries.Urolithiasis · 2018Review
- Cysteamine hydrochloride eye drop solution for the treatment of corneal cystine crystal deposits in patients with cystinosis: an evidence-based review.Clinical ophthalmology (Auckland, N.Z.) · 2018Review
- Parent Coping and the Behavioural and Social Outcomes of Children Diagnosed with Inherited Metabolic Disorders.JIMD reports · 2017Article
- Cystinosis: a review.Orphanet journal of rare diseases · 2016Review
- Geographical and Ethnic Distribution of Mutations of the Fumarylacetoacetate Hydrolase Gene in Hereditary Tyrosinemia Type 1.JIMD reports · 2015Article
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- Bloodspot acylcarnitine and amino acid analysis in cord blood samples: efficacy and reference data from a large cohort study.Journal of inherited metabolic disease · 2009Article
- "It's ok, we're not cousins by blood": the cousin marriage controversy in historical perspective.PLoS biology · 2008Article
- The prevalence of and survival in Mucopolysaccharidosis I: Hurler, Hurler-Scheie and Scheie syndromes in the UK.Orphanet journal of rare diseases · 2008Article
- The incidence of inherited metabolic disorders in the West Midlands, UK.Archives of disease in childhood · 2006Article
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveTo assess birth and gene frequencies of specific autosomal recessively inborn errors of metabolism (IEM) within different ethnic groups.
designRetrospective study in a regional centre for investigation and treatment of IEM. SUBJECTS: All children born within the West Midlands NHS Region, UK, during the decade immediately preceding the 1991 National Census.
methodsBirth frequencies for individual IEM were calculated separately for the main ethnic groups in the West Midlands using data from the West Midlands Neonatal Screening Programme, the regional register of IEM patients, and population frequencies from the National Census. Gene frequencies were calculated using previously documented observations on parental consanguinity rates and inbreeding coefficients.
resultsThe overall incidence of recorded IEM was tenfold higher among Pakistanis compared to white children (1:318 v 1:3760), whereas only one AfroCaribbean child was identified (incidence 1:16 887). Tyrosinaemia type 1, cystinosis, mucopolysaccharidosis type 1, non-ketotic hyperglycinaemia, and hyperchylomicronaemia all occurred more frequently among Pakistanis. An increased gene frequency was only confirmed for tyrosinaemia. The incidence of phenylketonuria was similar in Pakistani and white children (1:14 452 v 1:12 611), but the gene frequency was significantly lower in Pakistanis (1:713 v 1:112). These results illustrate the interplay between gene frequency and parental consanguinity in determining disease frequencies in different populations, and indicate anticipated disease frequencies in the absence of consanguineous marriage. These figures have implications for the organisation of services for management of inborn errors, for genetic counselling, and for the assessment of gene flow in world populations.
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