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Article

Screening of the most common medium-chain acyl CoA dehydrogenase (MCAD) deficiency mutation (K329E) in the Czech newborn population.

The Southeast Asian journal of tropical medicine and public health - 1 Jan 1999

Kozàk L, Hrabincovà E, Rudolfoà J, Vràbelovà S, Freiberger T

Abstract excerpt

Medium chain acyl-CoA dehydrogenase (MCAD) deficiency is the commonest inherited disorder of fatty acid oxidation. Most clinically ascertained cases are caused by thc point mutation K329E in MCAD gene. The frequency of this mutation as determined by usc of dried blood spots on Guthrie cards and the PCR NeoI digestion method. Using molecular ncwborn screening we found no K329E homozygote and 14 K329E heterozygotes...

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Source

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PMID: 11400780

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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