Relevance of expanded neonatal screening of medium-chain acyl co-a dehydrogenase deficiency: outcome of a decade in galicia (Spain).

Keywords

Newborn screening, Compound heterozygosity, Pediatrics, Asymptomatic, Medicine

References

• Tandem mass spectrometry: A new method for acylcarnitine profiling with potential for neonatal screening for inborn errors of metabolismAna Serrano Mateu — 1990
• Spectrum of Medium-Chain Acyl-CoA Dehydrogenase Deficiency Detected by Newborn ScreeningDavid Huertas Hernando — 2008
• Molecular survey of a prevalent mutation, 985A-to-G transition, and identification of five infrequent mutations in the medium-chain Acyl-CoA dehydrogenase (MCAD) gene in 55 patients with MCAD deficiency.Ichiro Yokota, Paul M. Coates, Daniel E. Hale — 1991
• A rare disease-associated mutation in the medium-chain acyl-CoA dehydrogenase (MCAD) gene changes a conserved arginine, previously shown to be functionally essential in short-chain acyl-CoA dehydrogenase (SCAD).Brage Storstein Andresen, Peter Bross, Thomas G. Jensen — 1993
• The Y42H mutation in medium-chain acyl-CoA dehydrogenase, which is prevalent in babies identified by MS/MS-based newborn screening, is temperature sensitive.Linda P. O’Reilly, Peter Bross, Thomas J. Corydon — 2004
• Identification and quantification of intermediates of unsaturated fatty acid metabolism in plasma of patients with fatty acid oxidation disorders.W. Onkenhout, Vicki Venizelos, P F van der Poel — 1995
• Newborns with C8-acylcarnitine level over the 90th centile have an increased frequency of the common MCAD 985A>G mutationB. Blois, Christie Riddell, Kent Dooley — 2005
• Specific diagnosis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in dried blood spots by a polymerase chain reaction (PCR) assay detecting a point-mutation (G985) in the MCAD gene.Niels Gregersen, Alexandra I. F. Blakemore, Vibeke Winter — 1991
• Medium-chain acyl-CoA dehydrogenase deficiency: genotype-biochemical phenotype correlations.Leigh B. Waddell, Veronica Wiley, Kevin Carpenter — 2006
• Lack of genotype-phenotype correlations and outcome in MCAD deficiency diagnosed by newborn screening in New York State.Georgianne L. Arnold, Carlos A. Saavedra‐Matiz, Patricia Galvin‐Parton — 2010
• Outcome of medium chain acyl-CoA dehydrogenase deficiency after diagnosisCallum Wilson, M. P Champion, Jane Collins — 1999
• Plasma free fatty acids in mitochondrial fatty acid oxidation defects.G Martı́nez, Gerardo Jiménez‐Sánchez, P. Divry — 1997
• Blood acylcarnitine levels in normal newborns and heterozygotes for medium-chain acyl-CoA dehydrogenase deficiency: A relationship between genotype and biochemical phenotype?Denis C. Lehotay, Joyce Lepage, James R. Thompson — 2004
• Mitochondrial fatty acid oxidation defects—remaining challengesNiels Gregersen, Brage Storstein Andresen, Christina B. Pedersen — 2008
• Reduced incidence of severe metabolic crisis or death in children with medium chain acyl-CoA dehydrogenase deficiency homozygous for c.985A>G identified by neonatal screening.Uta Nennstiel, S. Arenz, Esther M. Maier — 2005
• Prospective surveillance study of medium chain acyl-CoA dehydrogenase deficiency in the UKR. J. Pollitt, James V. Leonard — 1998
• Population spectrum of ACADM genotypes correlated to biochemical phenotypes in newborn screening for medium‐chain acyl‐CoA dehydrogenase deficiencyEsther M. Maier, Bernhard Liebl, Wulf Röschinger — 2005
• Clinical efficacy and cost-effectiveness of newborn screening for medium chain acyl-CoA dehydrogenase deficiency using tandem mass spectrometry.Khai Tran, Srabani Banerjee, Huimin Li — 2007
• ESI-MS/MS study of acylcarnitine profiles in urine from patients with organic acidemias and fatty acid oxidation disorders.Hironori Kobayashi, Yuki Hasegawa, Mitsuru Endo — 2007
• Medium-chain acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-based prospective screening of newborns differ from those observed in patients with clinical symptoms: identification and characterization of a new, prevalent mutation that results in mild MCAD deficiency.Brage Storstein Andresen, Steve F. Dobrowolski, Linda P. O’Reilly — 2001

Cited by

• Evaluation and long-term follow-up of infants with inborn errors of metabolism identified in an expanded screening programme.María L. Couce, Daisy Castiñeiras, Ma Dolores Bóveda — 2011
• Determinación de ácido etilendiaminotetraacético por espectrometría de masas en tándem en muestras de sangre impregnadas en papel. Utilidad en la medida de tirotropina para cribado neonatal de hipotiroidismo congénitoDaisy E. Castiñeiras Ramos, José A. Cocho de Juan, Ma Dolores Bóveda Fontán — 2012
• Medium-chain acyl-CoA dehydrogenase deficiency in Saudi Arabia: incidence, genotype, and preventive implicationsZuhair N. Al‐Hassnan, Faiqa Imtiaz, Mohamed Al‐Amoudi — 2010
• Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: regional experience and high incidence of carnitine deficiencyMaría L. Couce, Paula Sánchez‐Pintos, Luísa Diogo — 2013
• Energetic stress in combination with impaired fatty acid oxidation induces sequestration of CoA and adaptation of CoA metabolismLigia Akemi Kiyuna, Christoff Odendaal, Madhulika Singh — 2026

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