[Screening of newborn infants for medium-chain acyl-CoA dehydrogenase deficiency in Hungary].
The authors publish for the first time the Hungarian frequency of the medium chain acyl-CoA dehydrogenase (MCAD) deficiency. The determination was carried out with molecular biological methods in 1121 newborns. The disease is inherited as an autosomal recessive trait, caused by mutation in the enzyme gene. The deficiency is extremely frequent in the Anglo-Saxon populations. Here it is as common as phenylketonuria. The first episode presents usually in the first 2 years of life, and the mortality may approach 60 percent. Early and prompt diagnosis can lead to an effective management of the disorder. The severity of the disease and its frequency in foreign countries made the screening necessary.
Szalai
C
C
Fövárosi Onkormányzat Heim Pál Gyermekkórház-Szakrendelö.
Czinner
A
A
Révai
K
K
Nagy
I
I
D044944:Acyl-CoA Dehydrogenases / Q000172:deficiency* / Q000235:genetics; D002869:Chromosome Aberrations / Q000453:epidemiology; D025063:Chromosome Disorders; D003677:Deficiency Diseases / Q000201:enzymology / Q000235:genetics* / Q000401:mortality; D005260:Female; D005787:Gene Frequency; D005808:Genes, Recessive; D006801:Humans; D006814:Hungary / Q000453:epidemiology; D007231:Infant, Newborn; D008297:Male; D008403:Mass Screening; D008967:Molecular Biology; D010375:Pedigree; D016133:Polymerase Chain Reaction
D044944:Acyl-CoA Dehydrogenases
A középszénláncú zsírsav acil-CoA dehidrogenáz hiány újszülöttkori szürövizsgálata Magyarországon.