Infants suspected to have very-long chain acyl-CoA dehydrogenase deficiency from newborn screening

Molecular Genetics and Metabolism

Volumn 111, Issue 4, 2014, Pages 484-492

  Merritt, J Lawrence ^a   Vedal, Sverre ^a   Abdenur, Jose E ^b   Au, Sylvia M ^c   Barshop, Bruce A ^d   Feuchtbaum, Lisa ^e   Harding, Cary O ^f   Hermerath, Cheryl ^g   Lorey, Fred ^e   Sesser, David E ^g   Thompson, John D ^h   Yu, Arthur ^c  

^a UNIVERSITY OF WASHINGTON   (United States)

^b CHILDREN S HOSPITAL OF ORANGE COUNTY   (United States)

^c Genomics Section Hawai'i Department of Health   (United States)

^d UNIVERSITY OF CALIFORNIA   (United States)

^e CALIFORNIA DEPARTMENT OF PUBLIC HEALTH   (United States)

^f OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^g Oregon State Public Health Laboratory   (United States)

^h WASHINGTON STATE DEPARTMENT OF HEALTH   (United States)

Author keywords

Clinical outcome research; False positive; Newborn screening; Very long chain acyl CoA dehydrogenase deficiency; VLCADD

Indexed keywords

BUTYRYL COENZYME A DEHYDROGENASE; CARNITINE PALMITOYLTRANSFERASE; LONG CHAIN 3 HYDROXYACYL COENZYME A DEHYDROGENASE; LONG CHAIN ACYL COENZYME A DEHYDROGENASE; ACYLCARNITINE; CARNITINE; FATTY ACID;

ARTICLE; BIRTH WEIGHT; CLINICAL FEATURE; DNA SEQUENCE; ENZYME DEFICIENCY; FATTY ACID OXIDATION; FEMALE; FOLLOW UP; HETEROZYGOTE; HUMAN; LONG CHAIN ACYL COENZYME A DEHYDROGENASE DEFICIENCY; MAJOR CLINICAL STUDY; MALE; NEWBORN; NEWBORN SCREENING; PATIENT REFERRAL; PREDICTIVE VALUE; PRIORITY JOURNAL; RETROSPECTIVE STUDY; SENSITIVITY AND SPECIFICITY; ANALOGS AND DERIVATIVES; DEFICIENCY; DEMOGRAPHY; GENOTYPE; INFANT; LIPID METABOLISM, INBORN ERRORS; METABOLISM; MITOCHONDRIAL DISEASES; MUSCULAR DISEASES; NUCLEOTIDE SEQUENCE; PHENOTYPE; PROCEDURES; REPRODUCIBILITY;

ACYL-COA DEHYDROGENASE, LONG-CHAIN; CARNITINE; DEMOGRAPHY; DNA MUTATIONAL ANALYSIS; FATTY ACIDS; FEMALE; GENOTYPE; HUMANS; INFANT; INFANT, NEWBORN; LIPID METABOLISM, INBORN ERRORS; MALE; MITOCHONDRIAL DISEASES; MUSCULAR DISEASES; NEONATAL SCREENING; PHENOTYPE; REPRODUCIBILITY OF RESULTS;

EID: 84897574892     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2014.01.009     Document Type: Article

References (31)

1. Bertrand C., Largilliere C., Zabot M.T., Mathieu M., Vianey-Saban C. Very long chain acyl-CoA dehydrogenase deficiency: identification of a new inborn error of mitochondrial fatty acid oxidation in fibroblasts. Biochim. Biophys. Acta 1993, 1180:327-329.
2. Hoffman J.D., Steiner R.D., Paradise L., Harding C.O., Ding L., Strauss A.W., Kaplan P. Rhabdomyolysis in the military: recognizing late-onset very long-chain acyl Co-A dehydrogenase deficiency. Mil. Med. 2006, 171:657-658.
3. Vianey-Saban C., Divry P., Brivet M., Nada M., Zabot M.T., Mathieu M., Roe C. Mitochondrial very-long-chain acyl-coenzyme A dehydrogenase deficiency: clinical characteristics and diagnostic considerations in 30 patients. Clin. Chim. Acta 1998, 269:43-62.
4. Bonnet D., de Lonlay P., Gautier I., Rustin P., Rötig A., Kachaner J., Acar P., LeBidois J., Munnich A., Sidi D. Efficiency of metabolic screening in childhood cardiomyopathies. Eur. Heart J. 1998, 19:790-793.
5. Kluge S., Kuhnelt P., Block A., Merkel M., Gocht A., Lukacs Z., Kohlschutter A., Kreymann G. A young woman with persistent hypoglycemia, rhabdomyolysis, and coma: recognizing fatty acid oxidation defects in adults. Crit. Care Med. 2003, 31:1273-1276.
6. de Lonlay-Debeney P., Fournet J.C., Bonnet D. Fatty acid beta-oxidation deficiency masquerading as fulminant myocarditis. Int. J. Cardiol. 1998, 65:287-289.
7. Bennett M.J., Rinaldo P., Wilcken B., Pass K.A., Watson M.S., Wanders R.J. Newborn screening for metabolic disorders: how are we doing, and where are we going?. Clin. Chem. 2012, 58:324-331.
8. Wilcken B. Fatty acid oxidation disorders: outcome and long-term prognosis. J. Inherit. Metab. Dis. 2010, 33:501-506.
9. Watson M.S., Mann M.Y., Lloyd-Puryear M.A., Rinaldo P., Howell R.R. Newborn screening: toward a uniform screening panel and system-executive summary. Pediatrics 2006, 117:S296-S307.
10. Feuchtbaum L., Carter J., Dowray S., Currier R.J., Lorey F. Birth prevalence of disorders detectable through newborn screening by race/ethnicity. Genet. Med. 2012, 14:937-945.
11. Zytkovicz T.H., Fitzgerald E.F., Marsden D., Larson C.A., Shih V.E., Johnson D.M., Strauss A.W., Comeau A.M., Eaton R.B., Grady G.F. 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, 47:1945-1955.
12. Wilcken B., Wiley V., Hammond J., Carpenter K. Screening newborns for inborn errors of metabolism by tandem mass spectrometry. N. Engl. J. Med. 2003, 348:2304-2312.
13. Chace D.H., Kalas T.A., Naylor E.W. The application of tandem mass spectrometry to neonatal screening for inherited disorders of intermediary metabolism. Annu. Rev. Genomics Hum. Genet. 2002, 3:17-45.
14. Boneh A., Andresen B.S., Gregersen N., Ibrahim M., Tzanakos N., Peters H., Yaplito-Lee J., Pitt J.J. VLCADD deficiency: pitfalls in newborn screening and confirmation of diagnosis by mutation analysis. Mol. Genet. Metab. 2006, 88:166-170.
15. Spiekerkoetter U., Sun B., Zytkovicz T., Wanders R., Strauss A.W., Wendel U. MS/MS-based newborn and family screening detects asymptomatic patients with very-long-chain acyl-CoA dehydrogenase deficiency. J. Pediatr. 2003, 143:335-342.
16. Arnold G.L., Van Hove J., Freedenberg D., Strauss A., Longo N., Burton B., Garganta C., Ficicioglu C., Cederbaum S., Harding C., Boles R.G., Matern D., Chakraborty P., Feigenbaum A. A Delphi clinical practice protocol for the management of very long chain acyl-CoA dehydrogenase deficiency. Mol. Genet. Metab. 2009, 96:85-90.
17. McGoey R.R., Marble M. Positive newborn screen in a normal infant of a mother with asymptomatic very long-chain Acyl-CoA dehydrogenase deficiency. J. Pediatr. 2011, 158:1031-1032.
18. Schymik I., Liebig M., Mueller M., Wendel U., Mayatepek E., Strauss A.W., Wanders R.J., Spiekerkoetter U. Pitfalls of neonatal screening for very-long-chain acyl-CoA dehydrogenase deficiency using tandem mass spectrometry. J. Pediatr. 2006, 149:128-130.
19. Browning M.F., Larson C., Strauss A., Marsden D.L. Normal acylcarnitine levels during confirmation of abnormal newborn screening in long-chain fatty acid oxidation defects. J. Inherit. Metab. Dis. 2005, 28:545-550.
20. Ficicioglu C., Coughlin C.R., Bennett M.J., Yudkoff M. Very long-chain acyl-CoA dehydrogenase deficiency in a patient with normal newborn screening by tandem mass spectrometry. J. Pediatr. 2010, 156:492-494.
21. Sahai I., Bailey J.C., Eaton R.B., Zytkovicz T., Harris D.J. A near-miss: very long chain acyl-CoA dehydrogenase deficiency with normal primary markers in the initial well-timed newborn screening specimen. J. Pediatr. 2011, 158:172.
22. author reply 172-173.
23. Spiekerkoetter U., Lindner M., Santer R., Grotzke M., Baumgartner M.R., Boehles H., Das A., Haase C., Hennermann J.B., Karall D., de Klerk H., Knerr I., Koch H.G., Plecko B., Röschinger W., Schwab K.O., Scheible D., Wijburg F.A., Zschocke J., Mayatepek E., Wendel U. Management and outcome in 75 individuals with long-chain fatty acid oxidation defects: results from a workshop. J. Inherit. Metab. Dis. 2009, 32:488-497.
24. Feuchtbaum L., Dowray S., Lorey F. The context and approach for the California newborn screening short- and long-term follow-up data system: preliminary findings. Genet. Med. 2010, 12:S242-S250.
25. McHugh D.M., Cameron C.A., Abdenur J.E., Abdulrahman M., Adair O., Al Nuaimi S.A., Ahlman H., Allen J.J., Antonozzi I., Archer S., Au S., Auray-Blais C., Baker M., Bamforth F., Beckmann K., Pino G.B., Berberich S.L., Binard R., Boemer F., Bonham J., Breen N.N., Bryant S.C., Caggana M., Caldwell S.G., Camilot M., Campbell C., Carducci C., Cariappa R., Carlisle C., Caruso U., Cassanello M., Castilla A.M., Ramos D.E., Chakraborty P., Chandrasekar R., Ramos A.C., Cheillan D., Chien Y.H., Childs T.A., Chrastina P., Sica Y.C., de Juan J.A., Colandre M.E., Espinoza V.C., Corso G., Currier R., Cyr D., Czuczy N., D'Apolito O., Davis T., de Sain-Van der Velden M.G., Delgado Pecellin C., Di Gangi I.M., Di Stefano C.M., Dotsikas Y., Downing M., Downs S.M., Dy B., Dymerski M., Rueda I., Elvers B., Eaton R., Eckerd B.M., El Mougy F., Eroh S., Espada M., Evans C., Fawbush S., Fijolek K.F., Fisher L., Franzson L., Frazier D.M., Garcia L.R., Bermejo M.S., Gavrilov D., Gerace R., Giordano G., Irazabal Y.G., Greed L.C., Grier R., Grycki E., Gu X., Gulamali-Majid F., Hagar A.F., Han L., Hannon W.H., Haslip C., Hassan F.A., He M., Hietala A., Himstedt L., Hoffman G.L., Hoffman W., Hoggatt P., Hopkins P.V., Hougaard D.M., Hughes K., Hunt P.R., Hwu W.L., Hynes J., Ibarra-Gonzalez I., Ingham C.A., Ivanova M., Jacox W.B., John C., Johnson J.P., Jonsson J.J., Karg E., Kasper D., Klopper B., Katakouzinos D., Khneisser I., Knoll D., Kobayashi H., Koneski R., Kozich V., Kouapei R., Kohlmueller D., Kremensky I., la Marca G., Lavochkin M., Lee S.Y., Lehotay D.C., Lemes A., Lepage J., Lesko B., Lewis B., Lim C., Linard S., Lindner M., Lloyd-Puryear M.A., Lorey F., Loukas Y.L., Luedtke J., Maffitt N., Magee J.F., Manning A., Manos S., Marie S., Hadachi S.M., Marquardt G., Martin S.J., Matern D., Mayfield Gibson S.K., Mayne P., McCallister T.D., McCann M., McClure J., McGill J.J., McKeever C.D., McNeilly B., Morrissey M.A., Moutsatsou P., Mulcahy E.A., Nikoloudis D., Norgaard-Pedersen B., Oglesbee D., Oltarzewski M., Ombrone D., Ojodu J., Papakonstantinou V., Reoyo S.P., Park H.D., Pasquali M., Pasquini E., Patel P., Pass K.A., Peterson C., Pettersen R.D., Pitt J.J., Poh S., Pollak A., Porter C., Poston P.A., Price R.W., Queijo C., Quesada J., Randell E., Ranieri E., Raymond K., Reddic J.E., Reuben A., Ricciardi C., Rinaldo P., Rivera J.D., Roberts A., Rocha H., Roche G., Greenberg C.R., Mellado J.M., Juan-Fita M.J., Ruiz C., Ruoppolo M., Rutledge S.L., Ryu E., Saban C., Sahai I., Garcia-Blanco M.I., Santiago-Borrero P., Schenone A., Schoos R., Schweitzer B., Scott P., Seashore M.R., Seeterlin M.A., Sesser D.E., Sevier D.W., Shone S.M., Sinclair G., Skrinska V.A., Stanley E.L., Strovel E.T., Jones A.L., Sunny S., Takats Z., Tanyalcin T., Teofoli F., Thompson J.R., Tomashitis K., Domingos M.T., Torres J., Torres R., Tortorelli S., Turi S., Turner K., Tzanakos N., Valiente A.G., Vallance H., Vela-Amieva M., Vilarinho L., von Dobeln U., Vincent M.F., Vorster B.C., Watson M.S., Webster D., Weiss S., Wilcken B., Wiley V., Williams S.K., Willis S.A., Woontner M., Wright K., Yahyaoui R., Yamaguchi S., Yssel M., Zakowicz W.M. Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project. Genet. Med. 2011, 13:230-254.
26. Marquardt G., Currier R., McHugh D.M., Gavrilov D., Magera M.J., Matern D., Oglesbee D., Raymond K., Rinaldo P., Smith E.H., Tortorelli S., Turgeon C.T., Lorey F., Wilcken B., Wiley V., Greed L.C., Lewis B., Boemer F., Schoos R., Marie S., Vincent M.F., Sica Y.C., Domingos M.T., Al-Thihli K., Sinclair G., Al-Dirbashi O.Y., Chakraborty P., Dymerski M., Porter C., Manning A., Seashore M.R., Quesada J., Reuben A., Chrastina P., Hornik P., Atef Mandour I., Atty Sharaf S.A., Bodamer O., Dy B., Torres J., Zori R., Cheillan D., Vianey-Saban C., Ludvigson D., Stembridge A., Bonham J., Downing M., Dotsikas Y., Loukas Y.L., Papakonstantinou V., Zacharioudakis G.S., Barath A., Karg E., Franzson L., Jonsson J.J., Breen N.N., Lesko B.G., Berberich S.L., Turner K., Ruoppolo M., Scolamiero E., Antonozzi I., Carducci C., Caruso U., Cassanello M., la Marca G., Pasquini E., Di Gangi I.M., Giordano G., Camilot M., Teofoli F., Manos S.M., Peterson C.K., Mayfield Gibson S.K., Sevier D.W., Lee S.Y., Park H.D., Khneisser I., Browning P., Gulamali-Majid F., Watson M.S., Eaton R.B., Sahai I., Ruiz C., Torres R., Seeterlin M.A., Stanley E.L., Hietala A., McCann M., Campbell C., Hopkins P.V., de Sain-Van der Velden M.G., Elvers B., Morrissey M.A., Sunny S., Knoll D., Webster D., Frazier D.M., McClure J.D., Sesser D.E., Willis S.A., Rocha H., Vilarinho L., John C., Lim J., Caldwell S.G., Tomashitis K., Castineiras Ramos D.E., Cocho de Juan J.A., Rueda Fernandez I., Yahyaoui Macias R., Egea-Mellado J.M., Gonzalez-Gallego I., Delgado Pecellin C., Garcia-Valdecasas Bermejo M.S., Chien Y.H., Hwu W.L., Childs T., McKeever C.D., Tanyalcin T., Abdulrahman M., Queijo C., Lemes A., Davis T., Hoffman W., Baker M., Hoffman G.L. Enhanced interpretation of newborn screening results without analyte cutoff values. Genet. Med. 2012, 14:648-655.
27. Spiekerkoetter U., Bastin J., Gillingham M., Morris A., Wijburg F., Wilcken B. Current issues regarding treatment of mitochondrial fatty acid oxidation disorders. J. Inherit. Metab. Dis. 2010, 33:555-561.
28. Andresen B.S., Olpin S., Poorthuis B.J., Scholte H.R., Vianey-Saban C., Wanders R., Ijlst L., Morris A., Pourfarzam M., Bartlett K., Baumgartner E.R., deKlerk J.B., Schroeder L.D., Corydon T.J., Lund H., Winter V., Bross P., Bolund L., Gregersen N. Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency. Am. J. Hum. Genet. 1999, 64:479-494.
29. Liebig M., Schymik I., Mueller M., Wendel U., Mayatepek E., Ruiter J., Strauss A.W., Wanders R.J., Spiekerkoetter U. Neonatal screening for very long-chain acyl-coA dehydrogenase deficiency: enzymatic and molecular evaluation of neonates with elevated C14:1-carnitine levels. Pediatrics 2006, 118:1065-1069.
30. Gessner B.D., Gillingham M.B., Johnson M.A., Richards C.S., Lambert W.E., Sesser D., Rien L.C., Hermerath C.A., Skeels M.R., Birch S., Harding C.O., Wood T., Koeller D.M. Prevalence and distribution of the c.1436C→T sequence variant of carnitine palmitoyltransferase 1A among Alaska Native infants. J. Pediatr. 2011, 158:124-129.
31. Spiekerkoetter U., Haussmann U., Mueller M., ter Veld F., Stehn M., Santer R., Lukacs Z. Tandem mass spectrometry screening for very long-chain acyl-CoA dehydrogenase deficiency: the value of second-tier enzyme testing. J. Pediatr. 2010, 157:668-673.