title: Prenatal diagnosis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in a family with a previous fatal case of sudden unexpected death in childhood.
abstract: Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is a potentially fatal inherited disease with a carrier frequency of approximately 1:100 in most Caucasian populations. The disease is implicated in sudden unexpected death in childhood. A prevalent disease-causing point mutation (A985G) in the MCAD gene has been characterized, thus rendering diagnosis easy in the majority of cases. Since the clinical spectrum of MCAD deficiency ranges from death in the first days of life to an asymptomatic life, there are probably other genetic factors--in addition to MCAD mutations--involved in the expression of the disease. Thus, families who have experienced the death of a child from MCAD deficiency might have an increased risk of a seriously affected subsequent child. In such a family we have therefore performed a prenatal diagnosis on a chorionic villus sample by a highly specific and sensitive polymerase chain reaction (PCR) assay for the G985 mutation. The analysis was positive and resulted in abortion. We verified the diagnosis by direct analysis on blood spots and other tissue material from the aborted fetus and from family members.
authors.affiliation: Center for Medical Molecular Biology, Aarhus University Hospital, Denmark.
authors.forename: N
authors.initials: N
authors.lastname: Gregersen
authors.forename: V
authors.initials: V
authors.lastname: Winter
authors.forename: P K
authors.initials: PK
authors.lastname: Jensen
authors.forename: A
authors.initials: A
authors.lastname: Holmskov
authors.forename: S
authors.initials: S
authors.lastname: Kølvraa
authors.forename: B S
authors.initials: BS
authors.lastname: Andresen
authors.forename: E
authors.initials: E
authors.lastname: Christensen
authors.forename: P
authors.initials: P
authors.lastname: Bross
authors.forename: J B
authors.initials: JB
authors.lastname: Lundemose
authors.forename: M
authors.initials: M
authors.lastname: Gregersen
mesh_terms: D042964:Acyl-CoA Dehydrogenase; D044944:Acyl-CoA Dehydrogenases / Q000172:deficiency* / Q000235:genetics; D015193:Chorionic Villi Sampling; D004247:DNA / Q000032:analysis; D004591:Electrophoresis, Polyacrylamide Gel; D005227:Fatty Acids / Q000378:metabolism; D005260:Female; D006801:Humans; D007223:Infant; D010084:Oxidation-Reduction; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D013398:Sudden Infant Death / Q000209:etiology*
chemical_list: D005227:Fatty Acids; D004247:DNA; D044944:Acyl-CoA Dehydrogenases; D042964:Acyl-CoA Dehydrogenase