1H magnetic resonance spectroscopy in monocarboxylate transporter 8 gene deficiency

Journal of Clinical Endocrinology and Metabolism

Volumn 93, Issue 5, 2008, Pages 1854-1859

  Sijens, Paul E ^a   Rödiger, Lars A ^a   Meiners, Linda C ^a   Lunsing, Roelineke J ^a  

^a UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

CHOLINE; INOSITOL; MONOCARBOXYLATE TRANSPORTER 8; N ACETYLASPARTIC ACID; ASPARTIC ACID; DRUG DERIVATIVE; MONOCARBOXYLATE TRANSPORTER; N-ACETYLASPARTATE; SLC16A2 PROTEIN, HUMAN;

ARTICLE; BRAIN METABOLISM; CASE REPORT; CONTROLLED STUDY; DEMYELINATION; GENE MUTATION; GENETIC DISORDER; GRAY MATTER; HUMAN; INFANT; MONOCARBOXYLATE TRANSPORTER 8 GENE DEFICIENCY; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEAR MAGNETIC RESONANCE SPECTROSCOPY; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTON NUCLEAR MAGNETIC RESONANCE; WHITE MATTER; BRAIN; GENETICS; GENOTYPE; HYPOTHYROIDISM; METABOLISM; MUTATION; PATHOLOGY;

ASPARTIC ACID; BRAIN; CHOLINE; GENOTYPE; HUMANS; HYPOTHYROIDISM; INFANT; INOSITOL; MAGNETIC RESONANCE IMAGING; MAGNETIC RESONANCE SPECTROSCOPY; MONOCARBOXYLIC ACID TRANSPORTERS; MUTATION;

EID: 43249104125     PISSN: 0021972X     EISSN: 0021972X     Source Type: Journal    
DOI: 10.1210/jc.2007-2441     Document Type: Article

References (21)

1. EC Friesema S Ganguli A Abdalla JE Manning Fox AP Halestrap TJ Visser Identification of monocarboxylate transporter 8 as a specific thyroid hormone transporter J Biol Chem 278 2003 40128 40135
2. CE Schwartz MM May NJ Carpenter RC Rogers J Martin MG Bialer J Ward J Sanabria S Marsa JA Lewis R Echeverri HA Lubs K Voeller RJ Simensen RE Stevenson Allan-Herndon-Dudley syndrome and the monocarboxylate transporter 8 (MCT8 gene) Am J Hum Genet 77 2005 41 53
3. AM Dumitrescu XH Liao TB Best K Brockman S Refetoff A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene Am J Hum Genet 74 2004 168 175
4. EC Friesema A Grueters H Biebermann H Krude A von Moers M Reeser TG Barett EE Mancilla J Svensson MH Kester GG Kuiper S Balkassmi AG Uitterlinden J Koehrle P Rodien AP Halestap TJ Visser Association between mutations in a thyroid hormone transporter and severe X-linked psychomotor retardation Lancet 364 2004 1435 1437
5. CM Maranduba EC Friesema F Kok MH Kester J Jansen AL Sertie MR Passos-Bueno TJ Visser Decreased cellular uptake and metabolism in Allan-Herndon-Dudley syndrome (ADHS) due to a novel mutation in the MCT8 thyroid transporter J Med Genet 43 2006 457 460
6. J Jansen EC Friesema MH Kester C Milici M Reeser A Gruters TG Barrett EE Mancilla J Svensson JL Wemeau MH Busi da Silva Canalli J Lundgren ME McEntagart N Hopper WF Arts TJ Visser Functional analysis of monocarboxylate transporter 8 mutations identified in patients with X-linked psychomotor retardation and elevated serum triiodothryronine J Clin Endocrinol Metab 92 2007 2378 2381
7. 3 levels caused by mutations in monocarboxylate transporter 8 Nat Clin Pract Endocrinol Metab 2 2006 512 523
8. KR Holden OF Zuniga MM May H Su MR Molinero RC Rogers CE Schwartz X-linked MCT8 gene mutations: characterization of the pediatric neurologic phenotype J Child Neurol 20 2005 852 857
9. 4 levels in cerebral fluid J Pediatr 147 2005 552 554
10. H Biebermann P Ambrugger P Tarnow A von Moers U Schweizer A Grueters Extended clinical phenotype and functional studies of a loss-of-function mutation A150V in the thyroid hormone specific transporter gene MCT8 Eur J Endocrinol 153 2005 359 366
11. 3 transport in fibroblasts from MCT8 patient reflect phenotypic variability Thyroid 17 2007 1172
12. 1H Chemical shift imaging reveals loss of brain tumor choline signal after administration of Gd-contrast Magn Reson Med 37 1997 222 225
13. 1H chemical shift imaging characterization of human brain tumor and edema Eur Radiol 12 2002 2056 2061
14. 1H chemical shift imaging of the human brain at age 60-90 years reveals metabolic differences between women and men Magn Reson Med 42 1999 24 31
15. A Bitsch H Bruhn V Vougioukas A Stringaris H Lassmann J Frahm W Bruck Inflammatory CNS demyelination: histopathologic correlation with in vivo quantitative proton MR spectroscopy Am J Neuroradiol 20 1999 1619 1627
16. CE Schwarz RE Stevenson The MTC8 thyroid hormone transporter and Allan-Herndon-Dudley syndrome Best Pract Res Clin Endocrinol Metab 21 2007 307 321
17. RK Gupta V Bhatia H Popatni RB Gujral Brain metabolite changes on in vivo proton magnetic resonance spectroscopy in children with congenital hyperthyroidism J Pediatr 126 1995 389 392
18. NR Jagannathan N Tandon R Raghunathan N Kochupillai Reversal of abnormalities of myelination by thyroxine therapy in congenital hypothyroidism; localized in vivo proton magnetic resonance spectroscopy (MRS) study Dev Brain Res 109 1998 179 186
19. J Penrice EB Cady A Lorek M Wylezinska PN Amess RF Aldridge A Stewart JS Wyatt E Reynolds Proton magnetic resonance spectroscopy of the brain in normal preterm and term infants, and perinatal hypoxia-ischemia Pediatr Res 40 1996 6 14
20. V Siragusa S Boffelli G Weber F Triulzi S Orezzi G Scotti G Chiumello Brain magnetic resonance imaging in congenital hypothyroid infants at diagnosis Thyroid 7 1997 761 764
21. BD Ross S Bluml New aspects of brain physiology NMR Biomed 9 1999 279 296