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MCADD - Bibliography
Albers S, Levy HL, Irons M, Strauss AW, Marsden D.
Compound heterozygosity in four asymptomatic siblings with medium-chain acyl-CoA dehydrogenase deficiency.
J Inherit Metab Dis.
2001;24(3):417-8.
PubMed abstract
Andresen BS, Bross P, Udvari S, Kirk J, Gray G, Kmoch S, Chamoles N, Knudsen I, Winter V, Wilcken B, Yokota I, Hart K, Packman
S, Harpey JP, Saudubray JM, Hale DE, Bolund L, Kølvraa S, Gregersen N.
The molecular basis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in compound heterozygous patients: is there correlation
between genotype and phenotype?.
Hum Mol Genet.
1997;6(5):695-707.
PubMed abstract
Arnold GL, Saavedra-Matiz CA, Galvin-Parton PA, Erbe R, Devincentis E, Kronn D, Mofidi S, Wasserstein M, Pellegrino JE, Levy
PA, Adams DJ, Nichols M, Caggana M.
Lack of genotype-phenotype correlations and outcome in MCAD deficiency diagnosed by newborn screening in New York State.
Mol Genet Metab.
2010;99(3):263-8.
PubMed abstract
Bodman M, Smith D, Nyhan WL, Naviaux RK.
Medium-chain acyl coenzyme A dehydrogenase deficiency: occurrence in an infant and his father.
Arch Neurol.
2001;58(5):811-4.
PubMed abstract
Browning MF, Levy HL, Wilkins-Haug LE, Larson C, Shih VE.
Fetal fatty acid oxidation defects and maternal liver disease in pregnancy.
Obstet Gynecol.
2006;107(1):115-20.
PubMed abstract
Carpenter K, Wiley V, Sim KG, Heath D, Wilcken B.
Evaluation of newborn screening for medium chain acyl-CoA dehydrogenase deficiency in 275 000 babies.
Arch Dis Child Fetal Neonatal Ed.
2001;85(2):F105-9.
PubMed abstract / Full Text
Chace DH, Kalas TA, Naylor EW.
The application of tandem mass spectrometry to neonatal screening for inherited disorders of intermediary metabolism.
Annu Rev Genomics Hum Genet.
2002;3:17-45.
PubMed abstract
Coates PM, Stanley CA.
Inherited disorders of mitochondrial fatty acid oxidation.
Prog Liver Dis.
1992;10:123-38.
PubMed abstract
Derks TG, Reijngoud DJ, Waterham HR, Gerver WJ, van den Berg MP, Sauer PJ, Smit GP.
The natural history of medium-chain acyl CoA dehydrogenase deficiency in the Netherlands: clinical presentation and outcome.
J Pediatr.
2006;148(5):665-670.
PubMed abstract
Derks TG, van Spronsen FJ, Rake JP, van der Hilst CS, Span MM, Smit GP.
Safe and unsafe duration of fasting for children with MCAD deficiency.
Eur J Pediatr.
2007;166(1):5-11.
PubMed abstract
Ding JH, Roe CR, Iafolla AK, Chen YT.
Medium-chain acyl-coenzyme A dehydrogenase deficiency and sudden infant death.
N Engl J Med.
1991;325(1):61-2.
PubMed abstract
Duran M, Hofkamp M, Rhead WJ, Saudubray JM, Wadman SK.
Sudden child death and 'healthy' affected family members with medium-chain acyl-coenzyme A dehydrogenase deficiency.
Pediatrics.
1986;78(6):1052-7.
PubMed abstract
Gregersen N, Lauritzen R, Rasmussen K.
Suberylglycine excretion in the urine from a patient with dicarboxylic aciduria.
Clin Chim Acta.
1976;70(3):417-25.
PubMed abstract
Gregersen N, Wintzensen H, Christensen SK, Christensen MF, Brandt NJ, Rasmussen K.
C6-C10-dicarboxylic aciduria: investigations of a patient with riboflavin responsive multiple acyl-CoA dehydrogenation defects.
Pediatr Res.
1982;16(10):861-8.
PubMed abstract
Hale DE, Stanley CA, Coates PM.
Genetic defects of acyl-CoA dehydrogenases: studies using an electron transfer flavoprotein reduction assay.
Prog Clin Biol Res.
1990;321:333-48.
PubMed abstract
Iafolla AK, Thompson RJ Jr, Roe CR.
Medium-chain acyl-coenzyme A dehydrogenase deficiency: clinical course in 120 affected children.
J Pediatr.
1994;124(3):409-15.
PubMed abstract
Kaye, CI and the Committee on Genetics .
Newborn Screening Fact Sheets .
Pediatrics.
2006; 118(3):e953-e955.
Kelly DP, Whelan AJ, Ogden ML, Alpers R, Zhang ZF, Bellus G, Gregersen N, Dorland L, Strauss AW.
Molecular characterization of inherited medium-chain acyl-CoA dehydrogenase deficiency.
Proc Natl Acad Sci U S A.
1990;87(23):9236-40.
PubMed abstract / Full Text
Lang TF.
Adult presentations of medium-chain acyl-CoA dehydrogenase deficiency (MCADD).
J Inherit Metab Dis.
2009;32(6):675-83.
PubMed abstract
Lee PJ, Harrison EL, Jones MG, Jones S, Leonard JV, Chalmers RA.
L-carnitine and exercise tolerance in medium-chain acyl-coenzyme A dehydrogenase (MCAD) deficiency: a pilot study.
J Inherit Metab Dis.
2005;28(2):141-52.
PubMed abstract
Leonard JV, Dezateux C.
Newborn screening for medium chain acyl CoA dehydrogenase deficiency.
Arch Dis Child.
2009;94(3):235-8.
PubMed abstract
Lindner M, Hoffmann GF, Matern D.
Newborn screening for disorders of fatty-acid oxidation: experience and recommendations from an expert meeting.
J Inherit Metab Dis.
2010;.
PubMed abstract
Maier EM, Liebl B, Röschinger W, Nennstiel-Ratzel U, Fingerhut R, Olgemöller B, Busch U, Krone N, v Kries R, Roscher AA.
Population spectrum of ACADM genotypes correlated to biochemical phenotypes in newborn screening for medium-chain acyl-CoA
dehydrogenase deficiency.
Hum Mutat.
2005;25(5):443-52.
PubMed abstract
Marcì M, Ajovalasit P.
Medium-Chain Acyl-CoA Dehydrogenase Deficiency in an Infant with Dilated Cardiomyopathy.
Cardiol Res Pract.
2009;2009:281389.
PubMed abstract / Full Text
Matern D, Rinaldo P .
Medium-chain acyl-coenzyme A dehydrogenase deficiency.
NCBI/NIH; (2005)
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=mcad.
Nelson J, Lewis B, Walters B.
The HELLP syndrome associated wiht fetal medium-chain acyl-CoA dehydrogenase deficiency.
J Inherit Metab Dis.
2000;23(5):518-9.
PubMed abstract
Rhead WJ.
Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: a global perspective.
J Inherit Metab Dis.
2006;29(2-3):370-7.
PubMed abstract
Roe CR and Ding J.
The Metabolic and Molecular Basis of Inherited Disease.
8 th ed. ed. New York, NY: McGraw-Hill;
2001.
p 2297-326
Roe CR, Roe DS.
Recent developments in the investigation of inherited metabolic disorders using cultured human cells.
Mol Genet Metab.
1999;68(2):243-57.
PubMed abstract
Roth KS .
Medium-Chain Acyl-CoA Dehydrogenase Deficiency.
(2007)
http://www.emedicine.com/ped/topic1392.htm.
Saudubray JM, Martin D, de Lonlay P, Touati G, Poggi-Travert F, Bonnet D, Jouvet P, Boutron M, Slama A, Vianey-Saban C, Bonnefont
JP, Rabier D, Kamoun P, Brivet M.
Recognition and management of fatty acid oxidation defects: a series of 107 patients.
J Inherit Metab Dis.
1999;22(4):488-502.
PubMed abstract
Schatz UA, Ensenauer R.
The clinical manifestation of MCAD deficiency: challenges towards adulthood in the screened population.
J Inherit Metab Dis.
2010;.
PubMed abstract
Smith EH, Thomas C, McHugh D, Gavrilov D, Raymond K, Rinaldo P, Tortorelli S, Matern D, Highsmith WE, Oglesbee D.
Allelic diversity in MCAD deficiency: the biochemical classification of 54 variants identified during 5 years of ACADM sequencing.
Mol Genet Metab.
2010;100(3):241-50.
PubMed abstract
Solis JO, Singh RH.
Management of fatty acid oxidation disorders: a survey of current treatment strategies.
J Am Diet Assoc.
2002;102(12):1800-3.
PubMed abstract
Stanley CA.
Hypoglycemia in the neonate.
Pediatr Endocrinol Rev.
2006;4 Suppl 1:76-81.
PubMed abstract
Stanley, CA, Editors: Fernandes J, Saudubray JM, vand den Berghe G, Walter JH .
Disorders of fatty acid oxidation.
Inborn Metabolic Diseases: Diagnosis and Treatment. 2006; 4th Edition:175-190.. Heidelberg: Springer Medizin Verlag
Tajima G, Sakura N, Yofune H, Nishimura Y, Ono H, Hasegawa Y, Hata I, Kimura M, Yamaguchi S, Shigematsu Y, Kobayashi M.
Enzymatic diagnosis of medium-chain acyl-CoA dehydrogenase deficiency by detecting 2-octenoyl-CoA production using high-performance
liquid chromatography: a practical confirmatory test for tandem mass spectrometry newborn screening in Japan.
J Chromatogr B Analyt Technol Biomed Life Sci.
2005;823(2):122-30.
PubMed abstract
Tanaka K, Gregersen N, Ribes A, Kim J, Kølvraa S, Winter V, Eiberg H, Martinez G, Deufel T, Leifert B, Santer R, François
B, Pronicka E, László A, Kmoch S, Kremensky I, Kalaydjicva L, Ozalp I, Ito M.
A survey of the newborn populations in Belgium, Germany, Poland, Czech Republic, Hungary, Bulgaria, Spain, Turkey, and Japan
for the G985 variant allele with haplotype analysis at the medium chain Acyl-CoA dehydrogenase gene locus: clinical and evolutionary
consideration.
Pediatr Res.
1997;41(2):201-9.
PubMed abstract
Waddell L, Wiley V, Carpenter K, Bennetts B, Angel L, Andresen BS, Wilcken B.
Medium-chain acyl-CoA dehydrogenase deficiency: genotype-biochemical phenotype correlations.
Mol Genet Metab.
2006;87(1):32-9.
PubMed abstract
Walter JH.
L-carnitine in inborn errors of metabolism: what is the evidence?.
J Inherit Metab Dis.
2003;26(2-3):181-8.
PubMed abstract
Walter JH.
Tolerance to fast: rational and practical evaluation in children with hypoketonaemia.
J Inherit Metab Dis.
2009;32(2):214-7.
PubMed abstract
Wilcken B.
Fatty acid oxidation disorders: outcome and long-term prognosis.
J Inherit Metab Dis.
2010;.
PubMed abstract
Wilcken B, Haas M, Joy P, Wiley V, Bowling F, Carpenter K, Christodoulou J, Cowley D, Ellaway C, Fletcher J, Kirk EP, Lewis
B, McGill J, Peters H, Pitt J, Ranieri E, Yaplito-Lee J, Boneh A.
Expanded newborn screening: outcome in screened and unscreened patients at age 6 years.
Pediatrics.
2009;124(2):e241-8.
PubMed abstract
Yusupov R, Finegold DN, Naylor EW, Sahai I, Waisbren S, Levy HL.
Sudden death in medium chain acyl-coenzyme a dehydrogenase deficiency (MCADD) despite newborn screening.
Mol Genet Metab.
2010;101(1):33-9.
PubMed abstract
Zschocke J, Schulze A, Lindner M, Fiesel S, Olgemöller K, Hoffmann GF, Penzien J, Ruiter JP, Wanders RJ, Mayatepek E.
Molecular and functional characterisation of mild MCAD deficiency.
Hum Genet.
2001;108(5):404-8.
PubMed abstract
Zytkovicz TH, Fitzgerald EF, Marsden D, Larson CA, Shih VE, Johnson DM, Strauss AW, Comeau AM, Eaton RB, Grady GF.
Tandem mass spectrometric analysis for amino, organic, and fatty acid disorders in newborn dried blood spots: a two-year summary
from the New England Newborn Screening Program.
Clin Chem.
2001;47(11):1945-55.
PubMed abstract