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Related Experiment Video

Updated: May 22, 2026

Assessing Functional Performance in the Mdx Mouse Model
10:32

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Published on: March 27, 2014

MCAD deficiency in Denmark.

Brage Storstein Andresen1, Allan Meldgaard Lund, David Michael Hougaard

  • 1Research Unit for Molecular Medicine, Aarhus University Hospital and Faculty of Health Science, Skejby Sygehus, Aarhus, Denmark. bragea@bmb.sdu.dk

Molecular Genetics and Metabolism
|May 1, 2012
PubMed
Summary
This summary is machine-generated.

Newborn screening detects medium-chain acyl-CoA dehydrogenase deficiency (MCADD) four times more often than clinical cases. This suggests MCADD is more frequent, with reduced penetrance, necessitating early genetic analysis for accurate diagnosis.

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Area of Science:

  • Biochemistry
  • Genetics
  • Public Health

Background:

  • Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is the most common inherited disorder of fatty acid oxidation.
  • Newborn screening programs utilize tandem mass spectrometry (MS/MS) to detect MCADD due to its frequency and the benefits of early intervention.

Purpose of the Study:

  • To determine the incidence of MCADD in Denmark via newborn screening.
  • To compare screening-detected incidence with clinically presenting cases.
  • To investigate the mutation spectrum and penetrance in MCADD.

Main Methods:

  • Screening of 519,350 newborns using MS/MS for MCADD.
  • Confirmation of diagnosis through mutation analysis.
  • Analysis of mutation spectrum and carrier frequency.

Main Results:

  • Newborn screening identified MCADD in 1 in 8,954 infants, a fourfold increase compared to the 1 in 39,691 incidence of clinically presenting cases.
  • The mutation spectrum in screened newborns differed, with fewer homozygous cases for the common c.985A>G mutation and novel mutations observed.
  • Reduced penetrance of the c.985A>G mutation was suggested, with potentially only 50% of homozygotes manifesting symptoms.

Conclusions:

  • MCADD is significantly more frequent than previously estimated from clinical data.
  • Reduced penetrance and a broader spectrum of mutations contribute to the discrepancy between screened and clinical incidence.
  • Rapid genotyping from newborn blood spots is crucial for accurate MCADD diagnosis and genetic counseling.