Carnitine transporter defect: Diagnosis in asymptomatic adult women following analysis of acylcarnitines in their newborn infants
Carnitine transporter defect: Diagnosis in asymptomatic adult women following analysis of acylcarnitines in their newborn infants
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DOI：
10.1007/s10545-006-0376-y
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发表时间：
2006-10-01
影响因子：
4.2
通讯作者：
Walter, J. H.
中科院分区：
文献类型：
--
作者：
Vijay, S.;Patterson, A.;Walter, J. H.
肉毒碱转运蛋白缺陷（CTD）是一种常染色体隐性遗传疾病，其特征为非酮症低血糖、高氨血症和肝病发作，或发生心肌病，这两种疾病均发生在婴儿和儿童时期。血液中肉毒碱浓度极低。诊断可以通过发现皮肤成纤维细胞中脂肪氧化和肉毒碱摄取异常来证实。这种情况以前没有被认为会在以后的生活中出现或是良性的。我们报告了四名女性因在脐带血或婴儿新生儿样本中发现低肉毒碱浓度而被发现患有结缔组织疾病。所有四位母亲都没有症状，没有一位患有心肌病。
Carnitine transporter defect (CTD) is an autosomal recessive disorder characterized by episodes of non-ketotic hypoglycaemia, hyperammonaemia and liver disease, or by the development of cardiomyopathy, both of which occur in infancy and childhood. Blood carnitine concentrations are extremely low. The diagnosis can be confirmed by finding abnormal fat oxidation and carnitine uptake in skin fibroblasts. The condition has not previously been thought to present later in life or to be benign. We report the identification of four women discovered to have CTD as a consequence of finding low carnitine concentrations in the cord blood or newborn samples from their infants. All four mothers had been asymptomatic and none had a cardiomyopathy.