The frequency of a disease-causing point mutation in the gene coding for medium-chain acyl-CoA dehydrogenase in sudden infant death syndrome

TY - JOUR

T1 - The frequency of a disease-causing point mutation in the gene coding for medium-chain acyl-CoA dehydrogenase in sudden infant death syndrome

AU - Banner, Jytte

AU - Gregersen, N

AU - Kølvraa, S

AU - Nørgaard Pedersen, B

AU - Gregersen, M

AU - Helweg-Larsen, K

AU - Simonsen, J

PY - 1993

Y1 - 1993

N2 - A number of rare inherited metabolic disorders are known to lead to death in infancy. Deficiency of medium-chain acyl CoA dehydrogenase has, on clinical grounds, been related particularly to sudden infant death syndrome. The contribution of this disorder to the etiology of sudden infant death syndrome is still a matter of controversy. The present study investigated 120 well-defined cases of sudden infant death syndrome in order to detect the frequency of the most common disease-causing point mutation in the gene coding for medium-chain acyl-CoA dehydrogenase (G985) compared with the frequency in the general population. A highly specific polymerase chain reaction assay was applied on dried blood spots. No over-representation of homo- or heterozygosity for G985 appears to exist in such a strictly defined population, for which reason it may be more relevant to look at a broader spectrum of clinical presentations of inherited metabolic disorders and examine a wider range of sudden death in infancy.

AB - A number of rare inherited metabolic disorders are known to lead to death in infancy. Deficiency of medium-chain acyl CoA dehydrogenase has, on clinical grounds, been related particularly to sudden infant death syndrome. The contribution of this disorder to the etiology of sudden infant death syndrome is still a matter of controversy. The present study investigated 120 well-defined cases of sudden infant death syndrome in order to detect the frequency of the most common disease-causing point mutation in the gene coding for medium-chain acyl-CoA dehydrogenase (G985) compared with the frequency in the general population. A highly specific polymerase chain reaction assay was applied on dried blood spots. No over-representation of homo- or heterozygosity for G985 appears to exist in such a strictly defined population, for which reason it may be more relevant to look at a broader spectrum of clinical presentations of inherited metabolic disorders and examine a wider range of sudden death in infancy.

KW - Acyl-CoA Dehydrogenase

KW - Acyl-CoA Dehydrogenases

KW - Humans

KW - Infant

KW - Infant, Newborn

KW - Point Mutation

KW - Polymerase Chain Reaction

KW - Sudden Infant Death

M3 - Journal article

C2 - 8338987

SN - 0803-5253

VL - 82

SP - 544

EP - 546

JO - Acta Paediatrica, International Journal of Paediatrics, Supplement

JF - Acta Paediatrica, International Journal of Paediatrics, Supplement

IS - 6-7

ER -