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
Online Publication Date2020-11-11
Print Publication Date2021-01
Permanent link to this recordhttp://hdl.handle.net/10754/665985
MetadataShow full item record
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
Except where otherwise noted, this item's license is described as This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.