Succinic semialdehyde dehydrogenase deficiency presenting with central hypothyroidism
Alkhamis, Waleed H.
Jamjoom, Dima Z.
Al Khalifah, Reem
Alshammari, Nawaf Rahi
Arold, Stefan T.
KAUST DepartmentBiological and Environmental Sciences and Engineering (BESE) Division
Computational Bioscience Research Center (CBRC)
Computer, Electrical and Mathematical Sciences and Engineering (CEMSE) Division
Structural Biology and Engineering
Permanent link to this recordhttp://hdl.handle.net/10754/665985
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AbstractCentral 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.
CitationAlghamdi, 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/ccr3.3504
SponsorsOur family, College of Medicine Research Center, King Saud University. Published with written consent of the patient.
JournalClinical Case Reports
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