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Newborn screening for MCAD deficiency: experience of the first three years in British Columbia, Canada.

Gabriella A GA Horvath, A G F AG Davidson, Sylvia G SG Stockler-Ipsiroglu, Yolanda P YP Lillquist, Paula J PJ Waters, S S Olpin, B S BS Andresen, Jan J Palaty, Judie J Nelson, and Hilary H Vallance

Can J Public Health 99(4):276-80 (2008) PMID 18767270

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.

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