生物素酶缺乏症中的脑代谢变化。

Cerebral metabolic changes in biotinidase deficiency.

作者信息

Schürmann M, Engelbrecht V, Lohmeier K, Lenard H G, Wendel U, Gärtner J

机构信息

Department of Paediatrics, Heinrich-Heine-University, Düsseldorf, Germany.

出版信息

J Inherit Metab Dis. 1997 Nov;20(6):755-60. doi: 10.1023/a:1005307415289.

DOI:10.1023/a:1005307415289

PMID:9427142

Abstract

Clinical and metabolic changes in the central nervous system are described in a patient with biotinidase deficiency before and after biotin treatment. Lactate, pyruvate and 3-hydroxyisovaleric acid as metabolic disease markers were measured in blood, cerebrospinal fluid and brain tissue by biochemical analyses or localized magnetic resonance proton spectroscopy. The patient improved markedly with biotin treatment. Nevertheless, neurological sequelae and abnormal intracerebral lactate concentrations persisted despite normalized metabolic disease markers in extracerebral fluids. Therefore, localized in vivo measurements of intracerebral metabolites may be a valuable tool for elucidating the pathogenesis of biotinidase deficiency.

摘要

本文描述了一名生物素酶缺乏症患者在生物素治疗前后中枢神经系统的临床和代谢变化。通过生化分析或局部磁共振质子波谱法测量了血液、脑脊液和脑组织中作为代谢疾病标志物的乳酸、丙酮酸和3-羟基异戊酸。该患者经生物素治疗后明显好转。然而，尽管脑外液中的代谢疾病标志物已恢复正常，但神经后遗症和脑内乳酸浓度异常仍然存在。因此，脑内代谢物的局部活体测量可能是阐明生物素酶缺乏症发病机制的一个有价值的工具。