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.
OBJECTIVE: To evaluate newborn screening by tandem mass spectrometry for detection of medium chain acyl-CoA dehydrogenase (MCAD) deficiency, a fatty acidoxidation 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.
Authors: R J Pollitt; A Green; C J McCabe; A Booth; N J Cooper; J V Leonard; J Nicholl; P Nicholson; J R Tunaley; N K Virdi Journal: Health Technol Assess Date: 1997 Impact factor: 4.014
Authors: B S Andresen; P Bross; S Udvari; J Kirk; G Gray; S Kmoch; N Chamoles; I Knudsen; V Winter; B Wilcken; I Yokota; K Hart; S Packman; J P Harpey; J M Saudubray; D E Hale; L Bolund; S Kølvraa; N Gregersen Journal: Hum Mol Genet Date: 1997-05 Impact factor: 6.150
Authors: K Tanaka; N Gregersen; A Ribes; J Kim; S Kølvraa; V Winter; H Eiberg; G Martinez; T Deufel; B Leifert; R Santer; B François; E Pronicka; A László; S Kmoch; I Kremensky; L Kalaydjicva; I Ozalp; M Ito Journal: Pediatr Res Date: 1997-02 Impact factor: 3.756
Authors: P T Clayton; M Doig; S Ghafari; C Meaney; C Taylor; J V Leonard; M Morris; A W Johnson Journal: Arch Dis Child Date: 1998-08 Impact factor: 3.791
Authors: Gabriella A Horvath; A G F Davidson; Sylvia G Stockler-Ipsiroglu; Yolanda P Lillquist; Paula J Waters; S Olpin; B S Andresen; Jan Palaty; Judie Nelson; Hilary Vallance Journal: Can J Public Health Date: 2008 Jul-Aug