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Archives of Disease in Childhood - Fetal and Neonatal Edition 2001;85:F105-F109; doi:10.1136/fn.85.2.F105
Copyright © 2001 BMJ Publishing Group Ltd & Royal College of Paediatrics and Child Health.
Arch Dis Child Fetal Neonatal Ed 2001;85:F105-F109 ( September )

Evaluation of newborn screening for medium chain acyl-CoA dehydrogenase deficiency in 275 000 babies

K Carpenterb, V Wileya, K G Simb, D Heatha, B Wilckena b

a New South Wales Newborn Screening Programme, The Children's Hospital at Westmead, Sydney, Australia, b Biochemical Genetics Service, The Children's Hospital at Westmead

Correspondence to: Dr Wilcken, The Children's Hospital at Westmead, Locked Bag 4001, Westmead, NSW 2145, Australia Bridgetw{at}chw.edu.au

OBJECTIVE---To evaluate newborn screening by tandem mass spectrometry for detection of medium chain acyl-CoA dehydrogenase (MCAD) deficiency, a fatty acid oxidation disorder with significant mortality in undiagnosed patients.
DESIGN---The following were studied: (a) 13 clinically detected MCAD deficient subjects, most homozygous for the common A985G mutation, whose newborn screening sample was available; (b) 275 653 consecutive neonates undergoing routine newborn screening. Screened infants with blood octanoylcarnitine levels >=  1 µmol/l were analysed for the A985G mutation, had analysis of plasma and repeat blood spot acylcarnitines and urinary organic acids, and had fibroblast fatty acid oxidation or acylcarnitine studies.
RESULT---Twelve of the 13 patients later diagnosed clinically had newborn octanoylcarnitine levels > 2.3 µmol/l. Twenty three screened babies had initial octanoylcarnitine levels >=  1 µmol/l. Eleven of 12 babies with persistent abnormalities had metabolite and/or enzyme studies indicating MCAD deficiency. Only four were homozygous for the A985G mutation, the remainder carrying one copy.
CONCLUSIONS---Most patients with symptomatic MCAD deficiency could be detected by newborn screening. Infants actually detected had a lower frequency of A985G alleles than clinically diagnosed cases and may have a lower risk of becoming symptomatic.


Keywords: acylcarnitines; octanoylcarnitine; fatty acid oxidation; acylglycines; Reye syndrome

© 2001 by Archives of Disease in Childhood
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