线粒体β氧化对核黄素反应缺陷的神经精神表现
Neuropsychiatric manifestations of defect in mitochondrial beta oxidation response to riboflavin.
作者信息
Triggs W J, Roe C R, Rhead W J, Hanson S K, Lin S N, Willmore L J
机构信息
University of Texas Health Science Center, Department of Neurology, Houston.
出版信息
J Neurol Neurosurg Psychiatry. 1992 Mar;55(3):209-11. doi: 10.1136/jnnp.55.3.209.
Abstract
A 29 year old woman is described with severe hyperemesis gravidarum, atypical migraine, numerous admissions to hospital for psychiatric illness, non-epileptic seizures, and valproate-induced coma. Metabolic studies and measurement of [9,10(n)-3H]palmitate oxidation by cultured fibroblasts suggested a multiple acyl-CoA dehydrogenation disorder. Treatment with riboflavin abolished headaches and abnormal behaviour and normalised the plasma free carnitine level. Subtle defects in mitochondrial beta oxidation may be a treatable cause of disordered behaviour in adults.
摘要
一名29岁女性，患有严重妊娠剧吐、非典型偏头痛、因精神疾病多次入院、非癫痫性发作以及丙戊酸盐诱导的昏迷。代谢研究和通过培养的成纤维细胞对[9,10(n)-3H]棕榈酸氧化的测量提示存在多种酰基辅酶A脱氢酶缺乏症。用核黄素治疗可消除头痛和异常行为，并使血浆游离肉碱水平恢复正常。线粒体β氧化的细微缺陷可能是成人行为障碍的一个可治疗原因。
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本文引用的文献
1
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J Pediatr. 1983 Sep;103(3):394-8. doi: 10.1016/s0022-3476(83)80410-7.
2
Urinary excretion of l-carnitine and acylcarnitines by patients with disorders of organic acid metabolism: evidence for secondary insufficiency of l-carnitine.有机酸代谢紊乱患者尿中左旋肉碱和酰基肉碱的排泄：左旋肉碱继发性缺乏的证据
Pediatr Res. 1984 Dec;18(12):1325-8. doi: 10.1203/00006450-198412000-00021.
3
Complementation analysis of fatty acid oxidation disorders.脂肪酸氧化障碍的互补分析。
J Clin Invest. 1987 Jan;79(1):59-64. doi: 10.1172/JCI112808.
4
Plasma carnitine and renal-carnitine clearance during pregnancy.孕期血浆肉碱和肾脏肉碱清除率
Am J Clin Nutr. 1986 Sep;44(3):379-83. doi: 10.1093/ajcn/44.3.379.
5
Riboflavin concentration in maternal and cord blood in human pregnancy.人类孕期母体和脐带血中的核黄素浓度。
Am J Obstet Gynecol. 1987 Sep;157(3):748-52. doi: 10.1016/s0002-9378(87)80043-1.
6
Application of fast atom bombardment with tandem mass spectrometry and liquid chromatography/mass spectrometry to the analysis of acylcarnitines in human urine, blood, and tissue.
Anal Biochem. 1989 Aug 1;180(2):331-9. doi: 10.1016/0003-2697(89)90441-7.
7
Urine glyceraldehyde excretion is elevated in the renal Fanconi syndrome.在肾性范科尼综合征中，尿中甘油醛排泄量升高。
Kidney Int. 1989 Jan;35(1):99-104. doi: 10.1038/ki.1989.14.
8
Glutaric acidemia type II: heterogeneity of clinical and biochemical phenotypes.II型戊二酸血症：临床和生化表型的异质性
Pediatr Res. 1990 Mar;27(3):311-5. doi: 10.1203/00006450-199003000-00024.
9
Juvenile multiple sclerosis-like episodes associated with a defect of mitochondrial beta oxidation.与线粒体β氧化缺陷相关的青少年多发性硬化样发作。
Neurology. 1990 Mar;40(3 Pt 1):487-91. doi: 10.1212/wnl.40.3_part_1.487.
10
Valproate-induced coma with ketosis and carnitine insufficiency.
Arch Neurol. 1990 Oct;47(10):1131-3. doi: 10.1001/archneur.1990.00530100101021.
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