Succinic semialdehyde dehydrogenase deficiency presenting with central hypothyroidism

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.

Bibliographic Details
Main Authors:	Malak Ali Alghamdi, Waleed H. Alkhamis, Dima Z. Jamjoom, Reem Al Khalifah, Nawaf Rahi Alshammari, Khalid Alsumaili, Stefan T. Arold
Format:	Article
Language:	English
Published:	Wiley 2021-01-01
Series:	Clinical Case Reports
Subjects:	ALDH5A1 central hypothyroidism developmental delay succinic semialdehyde dehydrogenase deficiency
Online Access:	https://doi.org/10.1002/ccr3.3504

id	doaj-efa06ea84b33463e9b1c0fb0ddd86c7c
record_format	Article
spelling	doaj-efa06ea84b33463e9b1c0fb0ddd86c7c2021-05-21T11:05:45ZengWileyClinical Case Reports2050-09042021-01-019122923510.1002/ccr3.3504Succinic semialdehyde dehydrogenase deficiency presenting with central hypothyroidismMalak Ali Alghamdi0Waleed H. Alkhamis1Dima Z. Jamjoom2Reem Al Khalifah3Nawaf Rahi Alshammari4Khalid Alsumaili5Stefan T. Arold6Medical Genetics Division Department of Pediatrics College of Medicine King Saud University Riyadh Saudi ArabiaDepartment of Obstetrics and Gynecology King Saud University Medical City Riyadh Saudi ArabiaDepartment of Radiology and Medical Imaging College of Medicine King Saud University Riyadh Saudi ArabiaPediatric Endocrinology Division Department of Pediatrics College of Medicine King Saud University Riyadh Saudi ArabiaDepartment of Pediatrics College of Medicine King Saud University Riyadh Saudi ArabiaBiochemical Genetic Division Department of Pathology College of Medicine King Saud University Riyadh Saudi ArabiaDivision of Biological and Environmental Sciences and Engineering (BESE) King Abdullah University of Science and Technology (KAUST)Computational Bioscience Research Center (CBRC) Thuwal Saudi ArabiaAbstract 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.https://doi.org/10.1002/ccr3.3504ALDH5A1central hypothyroidismdevelopmental delaysuccinic semialdehyde dehydrogenase deficiency
collection	DOAJ
language	English
format	Article
sources	DOAJ
author	Malak Ali Alghamdi Waleed H. Alkhamis Dima Z. Jamjoom Reem Al Khalifah Nawaf Rahi Alshammari Khalid Alsumaili Stefan T. Arold
spellingShingle	Malak Ali Alghamdi Waleed H. Alkhamis Dima Z. Jamjoom Reem Al Khalifah Nawaf Rahi Alshammari Khalid Alsumaili Stefan T. Arold Succinic semialdehyde dehydrogenase deficiency presenting with central hypothyroidism Clinical Case Reports ALDH5A1 central hypothyroidism developmental delay succinic semialdehyde dehydrogenase deficiency
author_facet	Malak Ali Alghamdi Waleed H. Alkhamis Dima Z. Jamjoom Reem Al Khalifah Nawaf Rahi Alshammari Khalid Alsumaili Stefan T. Arold
author_sort	Malak Ali Alghamdi
title	Succinic semialdehyde dehydrogenase deficiency presenting with central hypothyroidism
title_short	Succinic semialdehyde dehydrogenase deficiency presenting with central hypothyroidism
title_full	Succinic semialdehyde dehydrogenase deficiency presenting with central hypothyroidism
title_fullStr	Succinic semialdehyde dehydrogenase deficiency presenting with central hypothyroidism
title_full_unstemmed	Succinic semialdehyde dehydrogenase deficiency presenting with central hypothyroidism
title_sort	succinic semialdehyde dehydrogenase deficiency presenting with central hypothyroidism
publisher	Wiley
series	Clinical Case Reports
issn	2050-0904
publishDate	2021-01-01
description	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.
topic	ALDH5A1 central hypothyroidism developmental delay succinic semialdehyde dehydrogenase deficiency
url	https://doi.org/10.1002/ccr3.3504
work_keys_str_mv	AT malakalialghamdi succinicsemialdehydedehydrogenasedeficiencypresentingwithcentralhypothyroidism AT waleedhalkhamis succinicsemialdehydedehydrogenasedeficiencypresentingwithcentralhypothyroidism AT dimazjamjoom succinicsemialdehydedehydrogenasedeficiencypresentingwithcentralhypothyroidism AT reemalkhalifah succinicsemialdehydedehydrogenasedeficiencypresentingwithcentralhypothyroidism AT nawafrahialshammari succinicsemialdehydedehydrogenasedeficiencypresentingwithcentralhypothyroidism AT khalidalsumaili succinicsemialdehydedehydrogenasedeficiencypresentingwithcentralhypothyroidism AT stefantarold succinicsemialdehydedehydrogenasedeficiencypresentingwithcentralhypothyroidism
_version_	1721432146453725184

Succinic semialdehyde dehydrogenase deficiency presenting with central hypothyroidism

Similar Items