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与家族性血清酰基肉碱升高相关的羟丁酸钠不耐受。

Sodium oxybate intolerance associated with familial serum acylcarnitine elevation.

机构信息

Woodinville Psychiatric Associates, Woodinville, WA 98072, USA.

出版信息

J Clin Sleep Med. 2013 Jan 15;9(1):71-2. doi: 10.5664/jcsm.2346.

DOI:10.5664/jcsm.2346
PMID:23319908
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3525992/
Abstract

Our case describes clinical features of two families defined by joint phenotypes: sodium oxybate intolerance and elevated serum acylcarnitines. Oxybate intolerance variably presents as either cervical dystonia or sleep-related eating disorder. Our objective is to identify biological markers which predict a poor response to sodium oxybate as a treatment for disturbed sleep. Familial inheritance pattern, genotype analysis, multiorgan system involvement, and response to treatment suggest the presence of a secondary cause of fatty oxidation defect, i.e., mitochondrial disorder. Our case report supports the possible conclusion that variance in human mitochondrial metabolism may affect sodium oxybate tolerability.

摘要

我们的病例描述了两个家族的关节表型

羟丁酸钠不耐受和血清酰基肉碱升高的临床特征。羟丁酸钠不耐受表现为颈部肌张力障碍或与睡眠相关的摄食障碍。我们的目的是确定生物标志物，以预测对钠羟丁酸钠治疗睡眠障碍的反应不佳。家族遗传模式、基因型分析、多器官系统受累以及对治疗的反应提示存在继发性脂肪酸氧化缺陷的原因，即线粒体疾病。我们的病例报告支持这样一个可能的结论，即人类线粒体代谢的差异可能影响羟丁酸钠的耐受性。