The frequency of a disease-causing point mutation in the gene coding for medium-chain acyl-CoA dehydrogenase in sudden infant death syndrome
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The frequency of a disease-causing point mutation in the gene coding for medium-chain acyl-CoA dehydrogenase in sudden infant death syndrome. / Banner, Jytte; Gregersen, N; Kølvraa, S; Nørgaard Pedersen, B; Gregersen, M; Helweg-Larsen, K; Simonsen, J.
I: Acta paediatrica (Oslo, Norway : 1992), Bind 82, Nr. 6-7, 1993, s. 544-6.Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt
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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
VL - 82
SP - 544
EP - 546
JO - Acta Paediatrica
JF - Acta Paediatrica
SN - 0803-5253
IS - 6-7
ER -
ID: 46810338