Elevated serum triiodothyronine and intellectual and motor disability with paroxysmal dyskinesia caused by a monocarboxylate transporter 8 gene mutation

Developmental Medicine and Child Neurology

Volumn 51, Issue 3, 2009, Pages 240-244

  Fuchs, Oliver ^a   Pearr, Nicole ^b   Pohlensz, Joachim ^b   Schmidt, Heinrich ^a  

^a LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^b JOHANNES GUTENBERG UNIVERSITY   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

IODIDE; LEVOTHYROXINE; LIOTHYRONINE; MONOCARBOXYLATE TRANSPORTER 8; ARGININE; HISTIDINE; MONOCARBOXYLATE TRANSPORTER; SLC16A2 PROTEIN, HUMAN;

ALLAN HERNDON DUDLEY SYNDROME; ARTICLE; CASE REPORT; CHILD; COMORBIDITY; CONVERGENT STRABISMUS; DEVELOPMENTAL DISORDER; DYSKINESIA; EAR MALFORMATION; GENE MUTATION; GENETIC ANALYSIS; GERMANY; HUMAN; HYPERTHYROTROPINEMIA; INTELLECTUAL IMPAIRMENT; LIOTHYRONINE BLOOD LEVEL; MALE; MOTOR DYSFUNCTION; MUSCLE ATROPHY; MUSCLE HYPERTONIA; MUSCLE HYPOTONIA; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PHYSICAL EXAMINATION; PRIORITY JOURNAL; SKELETAL MUSCLE; THYROID DISEASE; THYROID HORMONE BLOOD LEVEL; BLOOD; CHOREA; ENZYME LINKED IMMUNOSORBENT ASSAY; GENETICS; MENTAL DEFICIENCY; METHODOLOGY; MUTATION;

ARGININE; CHILD; CHOREA; DEVELOPMENTAL DISABILITIES; DNA MUTATIONAL ANALYSIS; ENZYME-LINKED IMMUNOSORBENT ASSAY; HISTIDINE; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MENTAL RETARDATION; MONOCARBOXYLIC ACID TRANSPORTERS; MUTATION; TRIIODOTHYRONINE;

EID: 63349098754     PISSN: 00121622     EISSN: 14698749     Source Type: Journal    
DOI: 10.1111/j.1469-8749.2008.03125.x     Document Type: Article

References (27)

1. Konig S, Moura Neto V. Thyroid hormone actions on neural cells. Cell Mol Neurobiol 2002; 22: 517-44.
2. Bernal J. Action of thyroid hormone in brain. J Endocrinol Invest 2002; 25: 268-88.
3. Kohrle J. Iodothyronine deiodinases. Method Enzymol 2002; 347: 125-67.
4. Bianco AC, Salvatore D, Gereben B, Berry MJ, Larsen PR. Biochemistry, cellular and molecular biology, and physiological roles of the iodothyronine selenodeiodinases. Endocr Rev 2002; 23: 38-89.
5. Friesema EC, Jansen J, Milici C, Visser TJ. Thyroid hormone transporters. Vitam Horm 2005; 70: 137-67.
6. Abe T, Suzuki T, Unno M, Tokui T, Ito S. Thyroid hormone transporters: recent advances. Trends Endocr Met 2002; 13: 215-20.
7. Hennemann G, Docter R, Friesema EC, de Jong M, Krenning EP, Visser TJ. Plasma membrane transport of thyroid hormones and its role in thyroid hormone metabolism and bioavailability. Endocr Rev 2001; 22: 451-76.
8. Heuer H, Maier MK, Iden S, et al. The monocarboxylate transporter 8 linked to human psychomotor retardation is highly expressed in thyroid hormone-sensitive neuron populations. Endocrinology 2005; 146: 1701-06.
9. Friesema EC, Grueters A, Biebermann H, et al. Association between mutations in a thyroid hormone transporter and severe X-linked psychomotor retardation. Lancet 2004; 364: 1435-37.
10. Friesema EC, Ganguly S, Abdalla A, Manning Fox JE, Halestrap AP, Visser TJ. Identification of monocarboxylate transporter 8 as a specific thyroid hormone transporter. J Biol Chem 2003; 278: 40128-35.
11. Lafreniere RG, Carrel L, Willard HF. A novel transmembrane transporter encoded by the XPCT gene in Xq13.2. Hum Mol Genet 1994; 3: 1133-39.
12. Halestrap AP, Meredith D. The SLC16 gene family-from monocarboxylate transporters (MCTs) to aromatic amino acid transporters and beyond. Pflug Arch 2004; 447: 619-28.
13. Chan SY, Franklyn JA, Pemberton HN, et al.Monocarboxylate transporter 8 expression in the human placenta: The effects of severe intrauterine growth restriction. J Endocrinol 2006; 189: 465-71.
14. Dumitrescu AM, Liao XH, Best TB, Brockmann K, Refetoff S. A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene. Am J Hum Genet 2004; 74: 168-75.
15. Friesema EC, Jansen J, Heuer H, Trajkovic M, Bauer K, Visser TJ. Mechanisms of disease: Psychomotor retardation and high T3 levels caused by mutations in monocarboxylate transporter 8. Nat Clin Pract 2006; 2: 512-23.
16. Herzovich V, Vaiani E, Marino R, et al. Unexpected peripheral markers of thyroid function in a patient with a novel mutation of the MCT8 thyroid hormone transporter gene. Horm Res 2007; 67: 1-6.
17. Jansen J, Friesema EC, Kester MH, et al. Functional analysis of monocarboxylate transporter 8 mutations identified in patients with X-linked psychomotor retardation and elevated serum triiodothyronine. J Clin Endocr Metab 2007; 92: 2378-81.
18. Papadimitriou A, Dumitrescu AM, Papavasiliou A, Fretzayas A, Nicolaidou P, Refetoff S. A novel monocarboxylate transporter 8 gene mutation as a cause of severe neonatal hypotonia and developmental delay. Pediatrics 2008; 121: E199-202.
19. Schwartz CE, May MM, Carpenter NJ, et al. Allan-Herndon-Dudley syndrome and the monocarboxylate transporter 8 (MCT8) gene. Am J Hum Genet 2005; 77: 41-53.
20. Maranduba CM, Friesema EC, Kok F, et al. Decreased cellular uptake and metabolism in Allan-Herndon-Dudley syndrome (AHDS) due to a novel mutation in the MCT8 thyroid hormone transporter. J Med Genet 2006; 43: 457-60.
21. Friesema EC, Jansen J, Visser TJ. Thyroid hormone transporters. Biochem Soc T 2005; 33: 228-32.
22. Brockmann K, Dumitrescu AM, Best TT, Hanefeld F, Refetoff S. X-linked paroxysmal dyskinesia and severe global retardation caused by defectiveMCT8 gene. J Neurol 2005; 252: 663-66.
23. Kakinuma H, Itoh M, Takahashi H. A novel mutation in the monocarboxylate transporter 8 gene in a boy with putamen lesions and low free T4 levels in cerebrospinal fluid. J Pediatr 2005; 147: 552-54.
24. Baqui M, Botero D, Gereben B, et al. Human type 3 iodothyronine selenodeiodinase is located in the plasma membrane and undergoes rapid internalization to endosomes. J Biol Chem 2003; 278: 1206-11.
25. Jansen J, Friesema EC, Milici C, Visser TJ. Thyroid hormone transporters in health and disease. Thyroid 2005; 15: 757-68.
26. Refetoff S, Dumitrescu AM. Syndromes of reduced sensitivity to thyroid hormone: Genetic defects in hormone receptors, cell transporters and deiodination. Best Pract ResCl En 2007; 21: 277-305.
27. Dumitrescu AM, Liao XH, Weiss RE, Millen K, Refetoff S. Tissue-specific thyroid hormone deprivation and excess in monocarboxylate transporter (mct) 8-deficient mice. Endocrinology 2006; 147: 4036-43.