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.
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.
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。
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