Diagnoses of newborns and mothers with carnitine uptake defects through newborn screening

Molecular Genetics and Metabolism

Volumn 100, Issue 1, 2010, Pages 46-50

  Lee, Ni Chung ^a   Tang, Nelson Leung Sang ^b   Chien, Yin Hsiu ^a   Chen, Chun An ^a   Lin, Sho Juan ^c   Chiu, Pao Chin ^d   Huang, Ai Chu ^a   Hwu, Wuh Liang ^a  

^a NATIONAL TAIWAN UNIVERSITY HOSPITAL   (Taiwan)

^b and Hong Kong Branch of CAS Center for Excellence in Animal Evolution and Genetics   (Hong Kong)

^c NATIONAL CHENG KUNG UNIVERSITY HOSPITAL   (Taiwan)

^d KAOHSIUNG VETERANS GENERAL HOSPITAL   (Taiwan)

Author keywords

Carnitine uptake defect; Maternal effect; Newborn screening; OCTN2; Primary carnitine deficiency; SLC22A5

Indexed keywords

ACYLCARNITINE; CARNITINE;

ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CARNITINE DEFICIENCY; CARNITINE UPTAKE DEFECT; CARNITINE UPTAKE DEFICIENCY; CHILD; CLINICAL ARTICLE; CONGESTIVE CARDIOMYOPATHY; FALSE POSITIVE RESULT; FEMALE; GENE MUTATION; HEART FUNCTION; HUMAN; INCIDENCE; INFANT; MALE; NEWBORN; NEWBORN SCREENING; PRESCHOOL CHILD; PREVALENCE; PRIORITY JOURNAL; SCHOOL CHILD; SLC22A5 GENE;

ADULT; CARDIOMYOPATHY, DILATED; CARNITINE; FALSE NEGATIVE REACTIONS; HUMANS; INFANT, NEWBORN; LIPID METABOLISM, INBORN ERRORS; MOTHERS; MUTATION; NEONATAL SCREENING; ORGANIC CATION TRANSPORT PROTEINS; TAIWAN; TANDEM MASS SPECTROMETRY;

EID: 77950518841     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2009.12.015     Document Type: Article

References (32)

1. Nezu J., Tamai I., Oku A., Ohashi R., Yabuuchi H., Hashimoto N., Nikaido H., Sai Y., Koizumi A., Shoji Y., Takada G., Matsuishi T., Yoshino M., Kato H., Ohura T., Tsujimoto G., Hayakawa J., Shimane M., and Tsuji A. Primary systemic carnitine deficiency is caused by mutations in a gene encoding sodium ion-dependent carnitine transporter. Nat. Genet. 21 (1999) 91-94
2. Online Mendelian Inheritance in Man, OMIM (TM). Johns Hopkins University, Baltimore, MD. MIM Number: 212140: 8/3/2009. Available from http://www.ncbi.nlm.nih.gov/omim/.
3. Schimmenti L.A., Crombez E.A., Schwahn B.C., Heese B.A., Wood T.C., Schroer R.J., Bentler K., Cederbaum S., Sarafoglou K., McCann M., Rinaldo P., Matern D., di San Filippo C.A., Pasquali M., Berry S.A., and Longo N. Expanded newborn screening identifies maternal primary carnitine deficiency. Mol. Genet. Metab. 90 (2007) 441-445
4. Wang Y., Ye J., Ganapathy V., and Longo N. Mutations in the organic cation/carnitine transporter OCTN2 in primary carnitine deficiency. Proc. Natl. Acad. Sci. USA 96 (1999) 2356-2360
5. Tang N.L., Ganapathy V., Wu X., Hui J., Seth P., Yuen P.M., Wanders R.J., Fok T.F., and Hjelm N.M. Mutations of OCTN2, an organic cation/carnitine transporter, lead to deficient cellular carnitine uptake in primary carnitine deficiency. Hum. Mol. Genet. 8 (1999) 655-660
6. Vijay S., Patterson A., Olpin S., Henderson M.J., Clark S., Day C., Savill G., and Walter J.H. Carnitine transporter defect: diagnosis in asymptomatic adult women following analysis of acylcarnitines in their newborn infants. J. Inherit. Metab. Dis. 29 (2006) 627-630
7. Tein I., De Vivo D.C., Bierman F., Pulver P., De Meirleir L.J., Cvitanovic-Sojat L., Pagon R.A., Bertini E., Dionisi-Vici C., Servidei S., et al. Impaired skin fibroblast carnitine uptake in primary systemic carnitine deficiency manifested by childhood carnitine-responsive cardiomyopathy. Pediatr. Res. 28 (1990) 247-255
8. Stanley C.A., DeLeeuw S., Coates P.M., Vianey-Liaud C., Divry P., Bonnefont J.P., Saudubray J.M., Haymond M., Trefz F.K., Breningstall G.N., et al. Chronic cardiomyopathy and weakness or acute coma in children with a defect in carnitine uptake. Ann. Neurol. 30 (1991) 709-716
9. Stanley C.A., Bennett M.J., and Mayatepek E. Disorders of mitochondrial fatty acid oxidation and related metabolic pathways. In: Fernandes J., Saudubray J.M., van den Berghe G., and Walter J.H. (Eds). Inborn Metabolic Diseases (2006), Springer, Heidelberg 177-188
10. Schulze A., Lindner M., Kohlmuller D., Olgemoller K., Mayatepek E., and Hoffmann G.F. Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry: results, outcome, and implications,. Pediatrics 111 (2003) 1399-1406
11. Wilcken B., Wiley V., Hammond J., and Carpenter K. Screening newborns for inborn errors of metabolism by tandem mass spectrometry. N. Engl. J. Med. 348 (2003) 2304-2312
12. Wilcken B., Wiley V., Sim K.G., and Carpenter K. Carnitine transporter defect diagnosed by newborn screening with electrospray tandem mass spectrometry. J. Pediatr. 138 (2001) 581-584
13. Schoderbeck M., Auer B., Legenstein E., Genger H., Sevelda P., Salzer H., Marz R., and Lohninger A. Pregnancy-related changes of carnitine and acylcarnitine concentrations of plasma and erythrocytes. J. Perinat. Med. 23 (1995) 477-485
14. Scaglia F., and Longo N. Primary and secondary alterations of neonatal carnitine metabolism. Semin. Perinatol. 23 (1999) 152-161
15. Christodoulou J., Teo S.H., Hammond J., Sim K.G., Hsu B.Y., Stanley C.A., Watson B., Lau K.C., and Wilcken B. First prenatal diagnosis of the carnitine transporter defect. Am. J. Med. Genet. 66 (1996) 21-24
16. Huang H.P., Chu K.L., Chien Y.H., Wei M.L., Wu S.T., Wang S.F., and Hwu W.L. Tandem mass neonatal screening in Taiwan-report from one center. J. Formos. Med. Assoc. 105 (2006) 882-886
17. Hwu W.L., Huang A.C., Chen J.S., Hsiao K.J., and Tsai W.Y. Neonatal screening and monitoring system in Taiwan. Southeast Asian J. Trop. Med. Public Health 34 Suppl. 3 (2003) 91-93
18. Tang N.L., Hwu W.L., Chan R.T., Law L.K., Fung L.M., and Zhang W.M. A founder mutation (R254X) of SLC22A5 (OCTN2) in Chinese primary carnitine deficiency patients. Hum. Mutat. 20 (2002) 232
19. Tang N.L., Hui J., Law L.K., To K.F., Cheung K.L., Magnus H.N., Yuen P.M., and Fok T.F. Primary carnitine deficiency in the Chinese. Chin. Med. J (Engl.) 113 (2000) 376-380
20. Hwu W.L., Chiang S.C., Chang M.H., and Wang T.R. Carnitine transport defect presenting with hyperammonemia: report of one case. Acta Paediatr. Taiwan 41 (2000) 36-38
21. Hwu W.L., Chien Y.H., Tang N.L., Law L.K., Lin C.Y., and Lee N.C. Deficiency of the carnitine transporter (OCTN2) with partial N-acetylglutamate synthase (NAGS) deficiency. J. Inherit. Metab. Dis. 30 (2007) 816
22. Dietzen D.J., Rinaldo P., Whitley R.J., Rhead W.J., Hannon W.H., Garg U.C., Lo S.F., and Bennett M.J. National academy of clinical biochemistry laboratory medicine practice guidelines: follow-up testing for metabolic disease identified by expanded newborn screening using tandem mass spectrometry; executive summary. Clin. Chem. 55 (2009) 1615-1626
23. Feuchtbaum L., Lorey F., Faulkner L., Sherwin J., Currier R., Bhandal A., and Cunningham G. California's experience implementing a pilot newborn supplemental screening program using tandem mass spectrometry. Pediatrics 117 (2006) S261-269
24. Frazier D.M., Millington D.S., McCandless S.E., Koeberl D.D., Weavil S.D., Chaing S.H., and Muenzer J. The tandem mass spectrometry newborn screening experience in North Carolina: 1997-2005. J. Inherit. Metab. Dis. 29 (2006) 76-85
25. Marsden D. Expanded newborn screening by tandem mass spectrometry: the Massachusetts and New England experience. Southeast Asian J. Trop. Med. Public Health 3 (2003) 111-114
26. Shigematsu Y., Hirano S., Hata I., Tanaka Y., Sudo M., Sakura N., Tajima T., and Yamaguchi S. Newborn mass screening and selective screening using electrospray tandem mass spectrometry in Japan. J. Chromatogr. B Anal. Technol. Biomed. Life Sci. 776 (2002) 39-48
27. Koizumi A., Nozaki J., Ohura T., Kayo T., Wada Y., Nezu J., Ohashi R., Tamai I., Shoji Y., Takada G., Kibira S., Matsuishi T., and Tsuji A. Genetic epidemiology of the carnitine transporter OCTN2 gene in a Japanese population and phenotypic characterization in Japanese pedigrees with primary systemic carnitine deficiency. Hum. Mol. Genet. 8 (1999) 2247-2254
28. G. la Marca, S. Malvagia, B. Casetta, E. Pasquini, M.A. Donati, E. Zammarchi, Progress in expanded newborn screening for metabolic conditions by LC-MS/MS in Tuscany: Update on methods to reduce false tests, J. Inherit. Metab. Dis. (2008), Short Report #127 Online, doi:10.1007/s10545-008-0965-z.
29. Spiekerkoetter U., Huener G., Baykal T., Demirkol M., Duran M., Wanders R., Nezu J., and Mayatepek E. Silent and symptomatic primary carnitine deficiency within the same family due to identical mutations in the organic cation/carnitine transporter OCTN2. J. Inherit. Metab. Dis. 26 (2003) 613-615
30. Amat di San Filippo C., Pasquali M., and Longo N. Pharmacological rescue of carnitine transport in primary carnitine deficiency. Hum. Mutat. 27 (2006) 513-523
31. Karmaniolas K., Ioannidis P., Liatis S., Dalamanga M., Papalambros T., and Migdalis I. Primary carnitine deficiency in a male adult. J. Med. 33 (2002) 105-110
32. Wang Y., Taroni F., Garavaglia B., and Longo N. Functional analysis of mutations in the OCTN2 transporter causing primary carnitine deficiency: lack of genotype-phenotype correlation. Hum. Mutat. 16 (2000) 401-407