Succinic semialdehyde dehydrogenase deficiency presenting with central hypothyroidism

Clinical Case Reports

Khalid Alsumaili¹  Waleed H. Alkhamis²  Nawaf Rahi Alshammari³  Dima Z. Jamjoom⁴  Stefan T. Arold⁵  Malak Ali Alghamdi⁶  Reem Al Khalifah⁷ 

[1] Biochemical Genetic Division, Department of Pathology, College of Medicine, King Saud University, Riyadh, Saudi Arabia;Department of Obstetrics and Gynecology, King Saud University Medical City, Riyadh, Saudi Arabia;Department of Pediatrics, College of Medicine, King Saud University, Riyadh, Saudi Arabia;Department of Radiology and Medical Imaging, College of Medicine, King Saud University, Riyadh, Saudi Arabia;Division of Biological and Environmental Sciences and Engineering (BESE), King Abdullah University of Science and Technology (KAUST), Computational Bioscience Research Center (CBRC), Thuwal, Saudi Arabia;Medical Genetics Division, Department of Pediatrics, College of Medicine, King Saud University, Riyadh, Saudi Arabia;Medical Genetics Division, Department of Pediatrics, King Saud University Medical city, Riyadh, Saudi Arabia;Pediatric Endocrinology Division, Department of Pediatrics, College of Medicine, King Saud University, Riyadh, Saudi Arabia;

关键词: ALDH5A1;    central hypothyroidism;    developmental delay;    succinic semialdehyde dehydrogenase deficiency;   

DOI  :  10.1002/ccr3.3504

来源: Wiley

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