Succinic semialdehyde dehydrogenase deficiency presenting with central hypothyroidism

Malak 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

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

Research output: Contribution to journal › Article › peer-review

1 Scopus citations

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.

Original language	English (US)
Journal	Clinical Case Reports
DOIs	https://doi.org/10.1002/ccr3.3504
State	Published - Nov 11 2020

Bibliographical note

KAUST Repository Item: Exported on 2020-11-18
Acknowledgements: Our family, College of Medicine Research Center, King Saud University. Published with written consent of the patient.

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10.1002/ccr3.3504

https://repository.kaust.edu.sa/bitstream/10754/665985/1/ccr3.3504.pdf

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@article{9d46100004ef4939949fa039c9b6b3df,

title = "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.",

author = "Malak Alghamdi and Alkhamis, {Waleed H.} and Jamjoom, {Dima Z.} and {Al Khalifah}, Reem and Alshammari, {Nawaf Rahi} and Khalid Alsumaili and Arold, {Stefan T.}",

note = "KAUST Repository Item: Exported on 2020-11-18 Acknowledgements: Our family, College of Medicine Research Center, King Saud University. Published with written consent of the patient.",

year = "2020",

month = nov,

day = "11",

doi = "10.1002/ccr3.3504",

language = "English (US)",

journal = "Clinical Case Reports",

issn = "2050-0904",

publisher = "John Wiley and Sons Ltd",

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TY - JOUR

T1 - Succinic semialdehyde dehydrogenase deficiency presenting with central hypothyroidism

AU - Alghamdi, Malak

AU - Alkhamis, Waleed H.

AU - Jamjoom, Dima Z.

AU - Al Khalifah, Reem

AU - Alshammari, Nawaf Rahi

AU - Alsumaili, Khalid

AU - Arold, Stefan T.

N1 - KAUST Repository Item: Exported on 2020-11-18 Acknowledgements: Our family, College of Medicine Research Center, King Saud University. Published with written consent of the patient.

PY - 2020/11/11

Y1 - 2020/11/11

N2 - 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.

AB - 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.

UR - http://hdl.handle.net/10754/665985

UR - https://onlinelibrary.wiley.com/doi/10.1002/ccr3.3504

U2 - 10.1002/ccr3.3504

DO - 10.1002/ccr3.3504

M3 - Article

C2 - 33489165

SN - 2050-0904

JO - Clinical Case Reports

JF - Clinical Case Reports

ER -

Succinic semialdehyde dehydrogenase deficiency presenting with central hypothyroidism

Abstract

Bibliographical note

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