BACKGROUND: In order to test the feasibility of cord blood screening for inherited metabolic disease, a two-year cohort study of births in six obstetric units from five towns in the north of England was undertaken. These towns have a high prevalence of consanguineous marriages, largely among the immigrant Asian community. The purpose of the study was to determine whether early detection of metabolic disease was possible and whether early intervention would improve prognosis. METHODS: Following parental consent, cord blood samples were collected at birth and analysed for acylcarnitine and amino acid profiles by tandem mass spectrometry in one of two laboratories. One laboratory used butylated derivatives, the other used underivatized samples. The same laboratories performed routine blood spot neonatal screening at 5-7 days of age on these babies. Patients with positive results were investigated and treated by a metabolic paediatrician as soon as possible. RESULTS: 24,983 births were examined. 12,952 samples were analysed as butyl derivatives, 12,031 samples were analysed underivatized. The following disorders were detected: medium-chain acyl-CoA dehydrogenase (MCAD) deficiency (1 case), 3-methylcrotonyl-CoA carboxylase (MCC) deficiency (2 cases), maternal carnitine transporter defect (2 cases), maternal MCC (1 case). The following disorders were diagnosed subsequently but were not detected by the cord blood screening: phenylketonuria (PKU) (1 case), maple syrup urine disease (MSUD) (2 cases), argininosuccinic aciduria (1 case), methylmalonic acidaemia (MMA) (1 case), glutaric aciduria type 2 (1 case), MCAD deficiency (2 cases), 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (1 case). Comprehensive reference data for all analytes by both methods were obtained. CONCLUSIONS: Cord blood testing is of limited value in detecting inherited metabolic disease. The metabolites associated with most disorders examined were not elevated in cord blood. Some maternal disorders, carnitine transporter defect and 3-methlycrotonyl-CoA carboxylase deficiency, are detected. These remain of uncertain clinical significance. Comprehensive reference data have been obtained that will facilitate future interpretation of studies in cord blood.
BACKGROUND: In order to test the feasibility of cord blood screening for inherited metabolic disease, a two-year cohort study of births in six obstetric units from five towns in the north of England was undertaken. These towns have a high prevalence of consanguineous marriages, largely among the immigrant Asian community. The purpose of the study was to determine whether early detection of metabolic disease was possible and whether early intervention would improve prognosis. METHODS: Following parental consent, cord blood samples were collected at birth and analysed for acylcarnitine and amino acid profiles by tandem mass spectrometry in one of two laboratories. One laboratory used butylated derivatives, the other used underivatized samples. The same laboratories performed routine blood spot neonatal screening at 5-7 days of age on these babies. Patients with positive results were investigated and treated by a metabolic paediatrician as soon as possible. RESULTS: 24,983 births were examined. 12,952 samples were analysed as butyl derivatives, 12,031 samples were analysed underivatized. The following disorders were detected: medium-chain acyl-CoA dehydrogenase (MCAD) deficiency (1 case), 3-methylcrotonyl-CoA carboxylase (MCC) deficiency (2 cases), maternal carnitine transporter defect (2 cases), maternal MCC (1 case). The following disorders were diagnosed subsequently but were not detected by the cord blood screening: phenylketonuria (PKU) (1 case), maple syrup urine disease (MSUD) (2 cases), argininosuccinic aciduria (1 case), methylmalonic acidaemia (MMA) (1 case), glutaric aciduria type 2 (1 case), MCAD deficiency (2 cases), 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (1 case). Comprehensive reference data for all analytes by both methods were obtained. CONCLUSIONS: Cord blood testing is of limited value in detecting inherited metabolic disease. The metabolites associated with most disorders examined were not elevated in cord blood. Some maternal disorders, carnitine transporter defect and 3-methlycrotonyl-CoA carboxylase deficiency, are detected. These remain of uncertain clinical significance. Comprehensive reference data have been obtained that will facilitate future interpretation of studies in cord blood.
Authors: S B van der Meer; F Poggi; M Spada; J P Bonnefont; H Ogier; P Hubert; E Depondt; D Rapoport; D Rabier; C Charpentier; P Parvy; J Bardet; P Kamoun; J M Saudubray Journal: Eur J Pediatr Date: 1996-03 Impact factor: 3.183
Authors: S Vijay; A Patterson; S Olpin; M J Henderson; S Clark; C Day; G Savill; J H Walter Journal: J Inherit Metab Dis Date: 2006-07-23 Impact factor: 4.982
Authors: Stefan Kölker; Ernst Christensen; James V Leonard; Cheryl R Greenberg; Avihu Boneh; Alberto B Burlina; Alessandro P Burlina; Marjorie Dixon; Marinus Duran; Angels García Cazorla; Stephen I Goodman; David M Koeller; Mårten Kyllerman; Chris Mühlhausen; Edith Müller; Jürgen G Okun; Bridget Wilcken; Georg F Hoffmann; Peter Burgard Journal: J Inherit Metab Dis Date: 2011-03-23 Impact factor: 4.982
Authors: E Vieira Neto; A A Fonseca; R F Almeida; M P Figueiredo; M A S Porto; M G Ribeiro Journal: Braz J Med Biol Res Date: 2012-04-12 Impact factor: 2.590
Authors: Donna B Raval; Kristina P Cusmano-Ozog; Omar Ayyub; Callie Jenevein; Laura H Kofman; Brendan Lanpher; Natalie Hauser; Debra S Regier Journal: Mol Genet Metab Rep Date: 2016-12-09
Authors: Julien Baruteau; Youssef Khalil; Stephanie Grunewald; Marta Zancolli; Anupam Chakrapani; Maureen Cleary; James Davison; Emma Footitt; Simon N Waddington; Paul Gissen; Philippa Mills Journal: Metabolites Date: 2019-11-12