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琥珀酸半醛脱氢酶缺乏症伴中枢性甲状腺功能减退症。

Succinic semialdehyde dehydrogenase deficiency presenting with central hypothyroidism.

作者信息

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

机构信息

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.

出版信息

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

DOI:10.1002/ccr3.3504
PMID:33489165
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7813088/
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.

摘要

中枢性甲状腺功能减退可能是琥珀半醛脱氢酶（SSADH）缺乏的另一种临床体征，这促使对中枢性甲状腺功能减退患者进行尿有机酸筛查以检测γ-羟基丁酸（GHB）。关于γ-氨基丁酸（GABA）与甲状腺激素相互作用的研究可能是一种新疗法的理念。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/aefb/7813088/07d8cd2d8a5c/CCR3-9-229-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/aefb/7813088/d1fb19c59c6f/CCR3-9-229-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/aefb/7813088/0a96afe36d4d/CCR3-9-229-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/aefb/7813088/a5945fe2b65e/CCR3-9-229-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/aefb/7813088/61e3ccd9c2a6/CCR3-9-229-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/aefb/7813088/07d8cd2d8a5c/CCR3-9-229-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/aefb/7813088/d1fb19c59c6f/CCR3-9-229-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/aefb/7813088/0a96afe36d4d/CCR3-9-229-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/aefb/7813088/a5945fe2b65e/CCR3-9-229-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/aefb/7813088/61e3ccd9c2a6/CCR3-9-229-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/aefb/7813088/07d8cd2d8a5c/CCR3-9-229-g005.jpg

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本文引用的文献

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Age-related phenotype and biomarker changes in SSADH deficiency.SSADH 缺乏症与年龄相关的表型和生物标志物变化。
Ann Clin Transl Neurol. 2018 Dec 3;6(1):114-120. doi: 10.1002/acn3.696. eCollection 2019 Jan.
2
The multiple genetic causes of central hypothyroidism.中枢性甲状腺功能减退症的多种遗传病因。
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Incidence and Geographic Distribution of Succinic Semialdehyde Dehydrogenase (SSADH) Deficiency.琥珀酸半醛脱氢酶（SSADH）缺乏症的发病率及地理分布
JIMD Rep. 2017;34:111-115. doi: 10.1007/8904_2016_14. Epub 2016 Nov 5.
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Natural history of succinic semialdehyde dehydrogenase deficiency through adulthood.琥珀酸半醛脱氢酶缺乏症至成年期的自然病史。
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Inherited disorders of gamma-aminobutyric acid metabolism and advances in ALDH5A1 mutation identification.γ-氨基丁酸代谢的遗传性疾病及ALDH5A1突变鉴定进展。
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Disorders of GABA metabolism: SSADH and GABA-transaminase deficiencies.γ-氨基丁酸（GABA）代谢紊乱：琥珀酸半醛脱氢酶（SSADH）和GABA转氨酶缺乏症。
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Subthalamic nucleus involvement in children: a neuroimaging pattern-recognition approach.儿童丘脑底核受累：一种神经影像学模式识别方法。
Eur J Paediatr Neurol. 2014 May;18(3):249-56. doi: 10.1016/j.ejpn.2013.09.010. Epub 2013 Oct 9.
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Thirty years beyond discovery--clinical trials in succinic semialdehyde dehydrogenase deficiency, a disorder of GABA metabolism.琥珀酸半醛脱氢酶缺乏症，一种 GABA 代谢紊乱：发现 30 年后的临床试验。
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Epilepsy in succinic semialdehyde dehydrogenase deficiency, a disorder of GABA metabolism.琥珀酸半醛脱氢酶缺乏症中的癫痫，一种γ-氨基丁酸代谢紊乱疾病。
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