Article
Newborn screening for MCAD deficiency: experience of the first three years in British Columbia, Canada.
Canadian journal of public health = Revue canadienne de sante publique - 1 Jan 2000
Horvath Gabriella A, Davidson A G F, Stockler-Ipsiroglu Sylvia G, Lillquist Yolanda P, Waters Paula J, Olpin S, Andresen B S, Palaty Jan, Nelson Judie, Vallance Hilary
Abstract excerpt
BACKGROUND: Medium Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency is an autosomal recessive disorder of fatty acid oxidation, with potential fatal outcome. MCAD deficiency is diagnosed by acylcarnitine analysis on newborn screening blood spot cards by tandem mass spectrometry. Early diagnosis of MCAD and presymptomatic treatment can potentially reduce morbidity and mortality. OBJECTIVES: To evaluate incidence,...
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