Succinic semialdehyde dehydrogenase deficiency presenting with central hypothyroidism
Type
ArticleAuthors
Alghamdi, Malak
Alkhamis, Waleed H.
Jamjoom, Dima Z.
Al Khalifah, Reem
Alshammari, Nawaf Rahi
Alsumaili, Khalid
Arold, Stefan T.
KAUST Department
Biological and Environmental Sciences and Engineering (BESE) DivisionBioscience Program
Computational Bioscience Research Center (CBRC)
Computer, Electrical and Mathematical Sciences and Engineering (CEMSE) Division
Structural Biology and Engineering
Date
2020-11-11Submitted Date
2020-02-29Permanent link to this record
http://hdl.handle.net/10754/665985Metadata
Show full item recordAbstract
Central hypothyroidism might be another clinical sign of SSADH deficiency which prompts urinary organic acid screening for GHB in central hypothyroidism patients. Studies on GABA and thyroid hormone interaction might be a concept of a new therapy.Citation
Alghamdi, M. A., Alkhamis, W. H., Jamjoom, D. Z., Al Khalifah, R., Alshammari, N. R., Alsumaili, K., & Arold, S. T. (2020). Succinic semialdehyde dehydrogenase deficiency presenting with central hypothyroidism. Clinical Case Reports. doi:10.1002/ccr3.3504Sponsors
Our family, College of Medicine Research Center, King Saud University. Published with written consent of the patient.Publisher
WileyJournal
Clinical Case ReportsAdditional Links
https://onlinelibrary.wiley.com/doi/10.1002/ccr3.3504Scopus Count
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