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Succinic semialdehyde dehydrogenase deficiency associated with combined 4-hydroxybutyric and dicarboxylic acidurias: potential for clinical misdiagnosis based on urinary organic acid profiling.

作者信息

Gibson K M, Goodman S I, Frerman F E, Glasgow A M

机构信息

Department of Pediatrics, University of California, San Diego, La Jolla.

出版信息

J Pediatr. 1989 Apr;114(4 Pt 1):607-10. doi: 10.1016/s0022-3476(89)80706-1.

DOI:10.1016/s0022-3476(89)80706-1
PMID:2926573
Abstract
摘要

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Succinic semialdehyde dehydrogenase deficiency associated with combined 4-hydroxybutyric and dicarboxylic acidurias: potential for clinical misdiagnosis based on urinary organic acid profiling.
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The clinical phenotype of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria): case reports of 23 new patients.琥珀酸半醛脱氢酶缺乏症（4-羟基丁酸尿症）的临床表型：23例新患者的病例报告
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Sedation with 4-hydroxybutyric acid: a potential pitfall in the diagnosis of SSADH deficiency.4-羟基丁酸镇静：SSADH缺乏症诊断中的一个潜在陷阱。
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Therapeutic concepts in succinate semialdehyde dehydrogenase (SSADH; ALDH5a1) deficiency (gamma-hydroxybutyric aciduria). Hypotheses evolved from 25 years of patient evaluation, studies in Aldh5a1-/- mice and characterization of gamma-hydroxybutyric acid pharmacology.琥珀酸半醛脱氢酶（SSADH；ALDH5a1）缺乏症（γ-羟基丁酸尿症）的治疗理念。基于25年的患者评估、对Aldh5a1基因敲除小鼠的研究以及γ-羟基丁酸药理学特性所形成的假说。
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Two exon-skipping mutations as the molecular basis of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria).两个外显子跳跃突变作为琥珀酸半醛脱氢酶缺乏症（4-羟基丁酸尿症）的分子基础。
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The first adult case with 4-hydroxybutyric aciduria.首例成人4-羟基丁酸尿症病例。
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