A középszénláncú zsírsav acil-CoA dehidrogenáz hiány újszülöttkori szürövizsgálata Magyarországon.

Translated title of the contribution: Screening of newborn infants for medium-chain acyl-CoA dehydrogenase deficiency in Hungary

C. Szalai, A. Czinner, K. Révai, I. Nagy

Research output: Contribution to journalArticle

Abstract

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.

Original languageHungarian
Pages (from-to)1595-1598
Number of pages4
JournalOrvosi Hetilap
Volume136
Issue number30
Publication statusPublished - Jul 23 1995

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Neonatal Screening
Hungary
Phenylketonurias
Early Diagnosis
Mutation
Mortality
Enzymes
Population
Genes
Medium chain acyl CoA dehydrogenase deficiency

ASJC Scopus subject areas

  • Medicine(all)

Cite this

A középszénláncú zsírsav acil-CoA dehidrogenáz hiány újszülöttkori szürövizsgálata Magyarországon. / Szalai, C.; Czinner, A.; Révai, K.; Nagy, I.

In: Orvosi Hetilap, Vol. 136, No. 30, 23.07.1995, p. 1595-1598.

Research output: Contribution to journalArticle

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