[Deficiency of the fatty-acid oxidising enzyme medium-chain acyl-CoA dehydrogenase (MCAD) in an adult, detected during a neonatal screening programme].

Abstract

In a trial running since October 2003 in the Dutch provinces of Friesland, Groningen, Drenthe and Overijssel neonatal screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency has been added to the regular newborn screening programme for phenylketonuria, congenital hypothyroidism and adrenogenital syndrome. One of the questions to be answered by this trial is the cause of the strong variation in clinical expression of the disorder. Underdiagnosing is an important factor in this phenomenon, as shown by the data of a family of which the case histories of the two oldest children were discussed in this journal in 1965. Both children died at a very young age. Recently, MCAD deficiency was diagnosed in the youngest child of this family, now a 34-year-old woman. This family history illustrates the variable clinical expression of MCAD deficiency, which can cause death but can also run a milder or even subclinical course. Moreover, this family history shows that the underdiagnosis of MCAD deficiency in deceased children may be a cause of the apparently limited clinical detection rate of this disease, for which a simple treatment consisting of life-style and dietary measures is available after diagnosis.

• Authors: T G Derks, H Jakobs, A Gerding, K E Niezen-Koning, D J Reijngoud, G P A Smit
• Journal: Nederlands tijdschrift voor geneeskunde (Ned Tijdschr Geneeskd) Vol. 148 Issue 44 Pg. 2185-90 (Oct 30 2004) ISSN: 0028-2162 [Print] Netherlands
• Vernacular Title: Defïciëntie van het vetzuuroxidatie-enzym middenketen-acyl-coënzym-A-dehydrogenase (MCAD) bij een volwassene, opgespoord tijdens een proefproject voor neonatale screening]
• PMID: 15559414 (Publication Type: English Abstract, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Acyl-CoA Dehydrogenases

Topics

• Acyl-CoA Dehydrogenases (deficiency, genetics)
• Female
• Humans
• Infant, Newborn
• Lipid Metabolism, Inborn Errors (diagnosis, genetics)
• Male
• Mass Screening (methods)
• Mutation
• Neonatal Screening (methods)