Succinic semialdehyde dehydrogenase deficiency presenting with central hypothyroidism

Malak Ali Alghamdi; Waleed H Alkhamis; Dima Z Jamjoom; Reem Al Khalifah; Nawaf Rahi Alshammari; Khalid Alsumaili; Stefan T Arold

doi:10.1002/ccr3.3504

Succinic semialdehyde dehydrogenase deficiency presenting with central hypothyroidism

Clin Case Rep. 2020 Nov 11;9(1):229-235. doi: 10.1002/ccr3.3504. eCollection 2021 Jan.

Authors

Malak Ali Alghamdi^{1

2}, Waleed H Alkhamis³, Dima Z Jamjoom⁴, Reem Al Khalifah⁵, Nawaf Rahi Alshammari⁶, Khalid Alsumaili⁷, Stefan T Arold⁸

Affiliations

¹ Medical Genetics Division Department of Pediatrics College of Medicine King Saud University Riyadh Saudi Arabia.
² Medical Genetics Division Department of Pediatrics King Saud University Medical city Riyadh Saudi Arabia.
³ Department of Obstetrics and Gynecology King Saud University Medical City Riyadh Saudi Arabia.
⁴ Department of Radiology and Medical Imaging College of Medicine King Saud University Riyadh Saudi Arabia.
⁵ Pediatric Endocrinology Division Department of Pediatrics College of Medicine King Saud University Riyadh Saudi Arabia.
⁶ Department of Pediatrics College of Medicine King Saud University Riyadh Saudi Arabia.
⁷ Biochemical Genetic Division Department of Pathology College of Medicine King Saud University Riyadh Saudi Arabia.
⁸ 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.

Abstract

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.

Keywords: ALDH5A1; central hypothyroidism; developmental delay; succinic semialdehyde dehydrogenase deficiency.

Publication types

Case Reports