Newborn screening for citrin deficiency and carnitine uptake defect using second-tier molecular tests

BMC Medical Genetics

Volumn 14, Issue 1, 2013, Pages

  Wang, Li Yun ^a,c   Chen, Nien I ^a,c   Chen, Pin Wen ^b   Chiang, Shu Chuan ^b   Hwu, Wuh Liang ^b   Lee, Ni Chung ^b   Chien, Yin Hsiu ^b  

^a NATIONAL TAIWAN UNIVERSITY   (Taiwan)

^b NATIONAL TAIWAN UNIVERSITY HOSPITAL   (Taiwan)

^c Taipei Institute of Pathology   (Taiwan)

Author keywords

Carnitine uptake defect; Citrin deficiency; Founder mutation; Newborn screening; Second tier molecular test

Indexed keywords

ARTICLE; CARNITINE UPTAKE DEFECT; CITRULLINEMIA; FALSE POSITIVE RESULT; GENE MUTATION; HUMAN; INCIDENCE; MAJOR CLINICAL STUDY; METABOLIC DISORDER; MUTATIONAL ANALYSIS; NEWBORN; NEWBORN SCREENING;

CALCIUM-BINDING PROTEINS; CARNITINE; CITRULLINE; FEMALE; HUMANS; INFANT, NEWBORN; MALE; MITOCHONDRIAL MEMBRANE TRANSPORT PROTEINS; MOLECULAR DIAGNOSTIC TECHNIQUES; MUTATION; NEONATAL SCREENING; ORGANIC ANION TRANSPORTERS; ORGANIC CATION TRANSPORT PROTEINS;

EID: 84873491676     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/1471-2350-14-24     Document Type: Article

References (26)

1. 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(23):2304-2312. 10.1056/NEJMoa025225, 12788994.
2. McHugh DM, Cameron CA, Abdenur JE, Abdulrahman M, Adair O, Al Nuaimi SA, Ahlman H, Allen JJ, Antonozzi I, Archer S, et al. Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project. Genet Med 2011, 13(3):230-254. 10.1097/GIM.0b013e31820d5e67, 21325949.
3. Bhattacharya K, Khalili V, Wiley V, Carpenter K, Wilcken B. Newborn screening may fail to identify intermediate forms of maple syrup urine disease. J Inherit Metab Dis 2006, 29(4):586.
4. Frazier DM, Millington DS, McCandless SE, Koeberl DD, Weavil SD, Chaing SH, Muenzer J. The tandem mass spectrometry newborn screening experience in North Carolina: 1997-2005. J Inherit Metab Dis 2006, 29(1):76-85. 10.1007/s10545-006-0228-9, 16601872.
5. Matern D, Tortorelli S, Oglesbee D, Gavrilov D, Rinaldo P. Reduction of the false-positive rate in newborn screening by implementation of MS/MS-based second-tier tests: the Mayo Clinic experience (2004-2007). J Inherit Metab Dis 2007, 30(4):585-592. 10.1007/s10545-007-0691-y, 17643193.
6. Saheki T, Kobayashi K, Iijima M, Moriyama M, Yazaki M, Takei Y, Ikeda S. Metabolic derangements in deficiency of citrin, a liver-type mitochondrial aspartate-glutamate carrier. Hepatol Res 2005, 33(2):181-184. 10.1016/j.hepres.2005.09.031, 16199199.
7. Saheki T, Kobayashi K. Mitochondrial aspartate glutamate carrier (citrin) deficiency as the cause of adult-onset type II citrullinemia (CTLN2) and idiopathic neonatal hepatitis (NICCD). J Hum Genet 2002, 47(7):333-341. 10.1007/s100380200046, 12111366.
8. Ohura T, Kobayashi K, Tazawa Y, Abukawa D, Sakamoto O, Tsuchiya S, Saheki T. Clinical pictures of 75 patients with neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD). J Inherit Metab Dis 2007, 30(2):139-144. 10.1007/s10545-007-0506-1, 17323144.
9. Tamamori A, Fujimoto A, Okano Y, Kobayashi K, Saheki T, Tagami Y, Takei H, Shigematsu Y, Hata I, Ozaki H, et al. Effects of citrin deficiency in the perinatal period: feasibility of newborn mass screening for citrin deficiency. Pediatr Res 2004, 56(4):608-614. 10.1203/01.PDR.0000139713.64264.BC, 15295082.
10. Tang NL, Hui J, Law LK, To KF, Ruiter JP, Ijlst L, Wanders RJ, Ho CS, Fok TF, Yuen PM, et al. Primary plasmalemmal carnitine transporter defect manifested with dicarboxylic aciduria and impaired fatty acid oxidation. J Inherit Metab Dis 1998, 21(4):423-425. 10.1023/A:1005314910623, 9700600.
11. Nezu J, Tamai I, Oku A, Ohashi R, Yabuuchi H, Hashimoto N, Nikaido H, Sai Y, Koizumi A, Shoji Y, et al. Primary systemic carnitine deficiency is caused by mutations in a gene encoding sodium ion-dependent carnitine transporter. Nat Genet 1999, 21(1):91-94. 10.1038/5030, 9916797.
12. Stanley CA, Bennett MJ, Mayatepek E. Disorders of Mitochondrial Fatty Acid Oxidation and Related Metabolic Pathways. Inborn Metabolic Diseases 2006, 177-188. Heidelberg: Springer, Fernandes J, Saudubray JM, Berghe G, Walter JH.
13. Tein I, De Vivo DC, Bierman F, Pulver P, De Meirleir LJ, Cvitanovic-Sojat L, Pagon RA, 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 1990, 28(3):247-255. 10.1203/00006450-199009000-00020, 2235122.
14. Stanley CA, DeLeeuw S, Coates PM, Vianey-Liaud C, Divry P, Bonnefont JP, Saudubray JM, Haymond M, Trefz FK, Breningstall GN, et al. Chronic cardiomyopathy and weakness or acute coma in children with a defect in carnitine uptake. Ann Neurol 1991, 30(5):709-716. 10.1002/ana.410300512, 1763895.
15. Mazzini M, Tadros T, Siwik D, Joseph L, Bristow M, Qin F, Cohen R, Monahan K, Klein M, Colucci W. Primary carnitine deficiency and sudden death: in vivo evidence of myocardial lipid peroxidation and sulfonylation of sarcoendoplasmic reticulum calcium ATPase 2. Cardiology 2011, 120(1):52-58. 10.1159/000333127, 22116472.
16. Kishimoto S, Suda K, Yoshimoto H, Teramachi Y, Nishino H, Koteda Y, Itoh S, Kudo Y, Iemura M, Matsuishi T. Thirty-year follow-up of carnitine supplementation in two siblings with hypertrophic cardiomyopathy caused by primary systemic carnitine deficiency. Int J Cardiol 2012, 159(1):e14-15. 10.1016/j.ijcard.2011.11.010, 22154200.
17. Lee NC, Tang NL, Chien YH, Chen CA, Lin SJ, Chiu PC, Huang AC, Hwu WL. Diagnoses of newborns and mothers with carnitine uptake defects through newborn screening. Mol Genet Metab 2010, 100(1):46-50. 10.1016/j.ymgme.2009.12.015, 20074989.
18. Lahjouji K, Elimrani I, Lafond J, Leduc L, Qureshi IA, Mitchell GA. L-Carnitine transport in human placental brush-border membranes is mediated by the sodium-dependent organic cation transporter OCTN2. Am J Physiol Cell Physiol 2004, 287(2):C263-269. 10.1152/ajpcell.00333.2003, 15238359.
19. Wilcken B, Wiley V, Sim KG, Carpenter K. Carnitine transporter defect diagnosed by newborn screening with electrospray tandem mass spectrometry. J Pediatr 2001, 138(4):581-584. 10.1067/mpd.2001.111813, 11295726.
20. Sinasac DS, Crackower MA, Lee JR, Kobayashi K, Saheki T, Scherer SW, Tsui LC. Genomic structure of the adult-onset type II citrullinemia gene, SLC25A13, and cloning and expression of its mouse homologue. Genomics 1999, 62(2):289-292. 10.1006/geno.1999.6006, 10610724.
21. Lu YB, Kobayashi K, Ushikai M, Tabata A, Iijima M, Li MX, Lei L, Kawabe K, Taura S, Yang Y, et al. Frequency and distribution in East Asia of 12 mutations identified in the SLC25A13 gene of Japanese patients with citrin deficiency. J Hum Genet 2005, 50(7):338-346. 10.1007/s10038-005-0262-8, 16059747.
22. Tang NL, Hwu WL, Chan RT, Law LK, Fung LM, Zhang WM. A founder mutation (R254X) of SLC22A5 (OCTN2) in Chinese primary carnitine deficiency patients. Hum Mutat 2002, 20(3):232.
23. Chen HW, Chen HL, Ni YH, Lee NC, Chien YH, Hwu WL, Huang YT, Chiu PC, Chang MH. Chubby face and the biochemical parameters for the early diagnosis of neonatal intrahepatic cholestasis caused by citrin deficiency. J Pediatr Gastroenterol Nutr 2008, 47(2):187-192. 10.1097/MPG.0b013e318162d96d, 18664871.
24. Saheki T, Kobayashi K, Iijima M, Horiuchi M, Begum L, Jalil MA, Li MX, Lu YB, Ushikai M, Tabata A, et al. Adult-onset type II citrullinemia and idiopathic neonatal hepatitis caused by citrin deficiency: involvement of the aspartate glutamate carrier for urea synthesis and maintenance of the urea cycle. Mol Genet Metab 2004, 81(Suppl 1):S20-26.
25. Lin JT, Hsiao KJ, Chen CY, Wu CC, Lin SJ, Chou YY, Shiesh SC. High resolution melting analysis for the detection of SLC25A13 gene mutations in Taiwan. Clin Chim Acta 2011, 412(5-6):460-465.
26. Kikuchi A, Arai-Ichinoi N, Sakamoto O, Matsubara Y, Saheki T, Kobayashi K, Ohura T, Kure S. Simple and rapid genetic testing for citrin deficiency by screening 11 prevalent mutations in SLC25A13. Mol Genet Metab 2012, 105(4):553-558. 10.1016/j.ymgme.2011.12.024, 22277121.