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Published on: June 25, 2010
Evaluation of newborn screening for medium chain acyl-CoA dehydrogenase deficiency in 275 000 babies
K Carpenter1, V Wiley, K G Sim
1Biochemical Genetics Service, The Children's Hospital at Westmead, Sydney, Australia.
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 > or = 1 micromol/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 micromol/l. Twenty three screened babies had initial octanoylcarnitine levels > or = 1 micromol/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.
