期刊
PEDIATRICS
卷 121, 期 1, 页码 E199-E202出版社
AMER ACAD PEDIATRICS
DOI: 10.1542/peds.2007-1247
关键词
monocarboxylate transporter 8; neonatal hypotonia; developmental delay; thyroid hormones
类别
资金
- NATIONAL INSTITUTE OF DIABETES AND DIGESTIVE AND KIDNEY DISEASES [R37DK015070, R01DK015070] Funding Source: NIH RePORTER
- NCRR NIH HHS [RR00055] Funding Source: Medline
- NIDDK NIH HHS [DK15070] Funding Source: Medline
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.
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