A Novel Monocarboxylate Transporter 8 Gene Mutation as a Cause of Severe Neonatal Hypotonia and Developmental Delay
- 1 January 2008
- journal article
- case report
- Published by American Academy of Pediatrics (AAP) in PEDIATRICS
- Vol. 121 (1), e199-e202
- https://doi.org/10.1542/peds.2007-1247
Abstract
Monocarboxylate transporter 8 acts as a specific cell membrane transporter for thyroxine and especially triiodothyronine into target cells. It is expressed in brain neurons and in many other tissues. The monocarboxylate transporter 8 gene resides on chromosome Xq13.2. An 11-month-old male infant was referred because of severe hypotonia from early life and global developmental delay. Thyroid-function tests showed normal thyrotropin levels and the characteristic for the disorder, including high serum triiodothyronine and low thyroxine concentrations. Molecular analysis of the monocarboxylate transporter 8 gene showed that the patient was hemizygous for a novel missense mutation P537L. This case highlights the importance of determining thyroid hormone levels, especially triiodothyronine, in infants with severe neonatal hypotonia.Keywords
This publication has 16 references indexed in Scilit:
- Abnormal thyroid hormone metabolism in mice lacking the monocarboxylate transporter 8JCI Insight, 2007
- Unexpected Peripheral Markers of Thyroid Function in a Patient with a Novel Mutation of the MCT8 Thyroid Hormone Transporter GeneHormone Research in Paediatrics, 2006
- Tissue-Specific Thyroid Hormone Deprivation and Excess in Monocarboxylate Transporter (Mct) 8-Deficient MiceEndocrinology, 2006
- A Novel Mutation in the Monocarboxylate Transporter 8 Gene in a Boy with Putamen Lesions and Low Free T4 Levels in Cerebrospinal FluidThe Journal of Pediatrics, 2005
- Decreased cellular uptake and metabolism in Allan-Herndon-Dudley syndrome (AHDS) due to a novel mutation in the MCT8 thyroid hormone transporterJournal of Medical Genetics, 2005
- Thyroid Hormone Transporters in Health and DiseaseThyroid®, 2005
- Allan-Herndon-Dudley Syndrome and the Monocarboxylate Transporter 8 (MCT8) GeneAmerican Journal of Human Genetics, 2005
- A Novel Syndrome Combining Thyroid and Neurological Abnormalities Is Associated with Mutations in a Monocarboxylate Transporter GeneAmerican Journal of Human Genetics, 2004
- Mechanisms of thyroid hormone receptor-specific nuclear and extra nuclear actionsMolecular and Cellular Endocrinology, 2003
- Identification of Monocarboxylate Transporter 8 as a Specific Thyroid Hormone TransporterJournal of Biological Chemistry, 2003