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The Value of Comprehensive Thyroid Function Testing and Family History for Early Diagnosis of MCT8 Deficiency.

Authors :
Bedoyan, Jirair K.
Tim-aroon, Thipwimol
Deeb, Kristin K.
Ganganna, Sreenath Thati
Bass, Nancy E.
Source :
Clinical Pediatrics. Mar2016, Vol. 55 Issue 3, p286-289. 4p.
Publication Year :
2016

Abstract

The article discusses the value of comprehensive thyroid function testing and family history for early diagnosis of MCT8 deficiency. Topics discussed inlcude monocarboxylate transporter 8 (MCT8) deficiency leading to devastating neurodevelopmental disorder; discussion on feasibility and appropriateness of inclusion of this disorder in newborn screening (NBS) programs; and focus on the brain magnetic resonance images.

Subjects

Subjects :
*CEREBRAL palsy
*DIFFERENTIAL diagnosis
*MEDICAL screening
*X-linked genetic disorders
*PROTEIN deficiency
*THYROID gland function tests
*THYROID hormones
*FAMILY history (Medicine)
*DIAGNOSIS
*GENETIC disorder treatment

Details

Language :
English
ISSN :
00099228
Volume :
55
Issue :
3
Database :
Academic Search Index
Journal :
Clinical Pediatrics
Publication Type :
Academic Journal
Accession number :
112916395
Full Text :
https://doi.org/10.1177/0009922815584219
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