Succinic semialdehyde dehydrogenase deficiency presenting with central hypothyroidism.

表现为中枢甲状腺功能减退症的琥珀酸半醛脱氢酶缺乏症。

• 发表时间: Jan 2021
• 来源期刊: Clin Case Rep
• DOI: 10.1002/ccr3.3504
• PMID: 33489165
• 文章类型: Case Reports
• 作者列表: Alghamdi MA,Alkhamis WH,Jamjoom DZ,Al Khalifah R,Alshammari NR,Alsumaili K,Arold ST

关键词: ALDH5A1; central hypothyroidism; developmental delay; succinic semialdehyde dehydrogenase deficiency

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

中枢甲状腺功能减退症可能是SSADH缺乏的另一个临床体征，提示中枢甲状腺功能减退症患者尿有机酸筛查GHB。对GABA和甲状腺激素相互作用的研究可能是一种新疗法的概念。