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

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Succinic semialdehyde dehydrogenase deficiency presenting with central hypothyroidism

Journal article

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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 and Stefan T. Arold

Clinical case reports, Vol.9(1), pp.229-235

01/2021

DOI: https://doi.org/10.1002/ccr3.3504

PMCID: 7813088

PMID: 33489165

Abstract

ALDH5A1

Case Report

Case Reports

central hypothyroidism

developmental delay

succinic semialdehyde dehydrogenase deficiency

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. 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.

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Title: Succinic semialdehyde dehydrogenase deficiency presenting with central hypothyroidism
Creators - without role: Malak Ali Alghamdi - King Saud University
Waleed H. Alkhamis - King Saud University
Dima Z. Jamjoom - King Saud University
Reem Al Khalifah - King Saud University
Nawaf Rahi Alshammari - King Saud University
Khalid Alsumaili - King Saud University
Stefan T. Arold - King Abdullah University of Science and Technology
Publication Details: Clinical case reports, Vol.9(1), pp.229-235
Publisher: John Wiley and Sons Inc
Grant note: College of Medicine Research Center, the Deanship of Scientific Research CMRC‐DHG‐2/003 / Dallah healthcare grant URF/1/1976‐25 / STA was supported by the King Abdullah University of Science and Technology (KAUST) through the baseline fund and the Award No. URF/1/1976‐25 from the Office of Sponsored Research (OSR).
Identifiers: 9944714108331
Academic Unit: King Abdullah University of Science & Technology; King Saud University
Language: English
Resource Type: Journal article