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Article

Ethnicity of children with homozygous c.985A>G medium-chain acyl-CoA dehydrogenase deficiency: findings from screening approximately 1.1 million newborn infants.

Journal of medical screening - 1 Jan 2008

Khalid J M, Oerton J, Cortina-Borja M, Andresen B S, Besley G, Dalton R N, Downing M, Green A, Henderson M, Leonard J, Dezateux C

Abstract excerpt

OBJECTIVES: It has been suggested that homozygous c.985A>G medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is a disease of White ethnic origin but little is known regarding its ethnic distribution. We estimated ethnic-specific homozygous c.985A>G MCADD birth prevalence from a large-scale UK newborn screening study. METHODS: Homozygous c.985A>G MCADD cases were ascertained in six English newborn screening...

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PMID: 18927092
DOI: 10.1258/jms.2008.008043

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