Newborns with C8-acylcarnitine level over the 90th centile have an increased frequency of the common MCAD 985A>G mutation

B. Blois, C. Riddell, K. Dooley, Sarah Dyack

Résultat de recherche: Articleexamen par les pairs

14 Citations (Scopus)

Résumé

Medium chain acyl-coenzyme A dehydrogenase (MCAD) deficiency is the most commonly inherited defect of fatty acid oxidation. This autosomal recessive disorder is characterized by the tendency to become profoundly hypoglycaemic under fasting stress conditions, leading to lethargy, coma, brain injury and/or death. The most common mutation resulting in MCAD deficiency ascertained through individuals of northern European descent presenting with clinical symptoms is a single base-pair change (985A>G) that accounts for up to 90% of these abnormal alleles. In the general Nova Scotia population, which comprises largely individuals of northern European descent, this mutation is present at a frequency of 1 in 68. A recently implemented newborn screening programme for MCAD deficiency uses tandem mass spectrometry (MS/MS) to analyse blood spots from newborns for C8-acylcarnitine. After reviewing initial data from this newborn screening programme, we hypothesized that there was an unexpectedly high frequency of individuals with an MCAD 985A>G mutation and C8-acylcarnitine levels at the upper end of the normal range. A sample representing the upper 90th centile was screened for the presence of the 985A>Gmutation and 61 heterozygotes were identified, establishing a high frequency (1/10) of this 985A>G mutation in this selected population. We have demonstrated a relationship between heterozygosity for 985A>G and C8 -acylcarnitine levels. These results contribute to the interpretation of C8-acylcarnitine levels and the establishment of a more clinically relevant screening cut-off point.

Langue d'origineEnglish
Pages (de-à)551-556
Nombre de pages6
JournalJournal of Inherited Metabolic Disease
Volume28
Numéro de publication4
DOI
Statut de publicationPublished - août 2005

Note bibliographique

Funding Information:
This research was supported by the IWK Research Foundation. We thank Lynne Gallant and Karen Samson for technical assistance and Linda Kipper for administrative assistance. We also thank Dr Bragge Andressen for his efforts in finding MCAD mutations in our patients.

ASJC Scopus Subject Areas

  • Genetics
  • Genetics(clinical)

PubMed: MeSH publication types

  • Journal Article
  • Research Support, Non-U.S. Gov't

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