Tyrosine hydroxylase deficiency: Clinical manifestations of catecholamine insufficiency in infancy
Tyrosine hydroxylase deficiency: Clinical manifestations of catecholamine insufficiency in infancy
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DOI：
10.1002/mds.10095
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发表时间：
2002-03-01
影响因子：
8.6
通讯作者：
Wilcken, B
中科院分区：
文献类型：
--
作者：
Grattan-Smith, PJ;Wevers, RA;Wilcken, B
先天性错误的儿茶酚胺生物合成是罕见的，但极大的兴趣，因为他们是遗传性疾病，在一些，治疗可能会完全扭转严重的神经异常。它们还提供了对生物胺在发育中的大脑中的作用的见解。我们描述了一名患有酪氨酸羟化酶（TOH）缺乏症的婴儿在30个月内的临床病程。父母是近亲，遗传分析显示婴儿是TOH基因中常见的G698A突变纯合子。TOH缺乏症可以被看作是一种单纯的儿茶酚胺缺乏症的模型。实验证据，其他生物胺紊乱的报告，以及我们对这名婴儿的经验表明，婴儿期儿茶酚胺缺乏症的症状可以广泛地细分。多巴胺缺乏的体征包括震颤、对左旋多巴（左旋多巴）治疗的超敏反应、眼球转动危象、运动不能、僵硬和肌张力障碍。去甲肾上腺素缺乏的表现包括上睑下垂、瞳孔缩小、口咽分泌物过多和体位性低血压。对左旋多巴过敏是这个婴儿的一个特殊的管理问题。(C)2002运动障碍协会。
Inborn errors of catecholamine biosynthesis are rare but of great interest as they are genetic disorders, and in some, treatment may completely reverse severe neurological abnormalities. They also provide insights into the action of the biogenic amines in the developing brain. We describe the clinical course of an infant with tyrosine hydroxylase (TOH) deficiency over a 30-month period. The parents are consanguineous, and genetic analysis revealed the infant to be homozygous for the common G698A mutation in the TOH gene. TOH deficiency can be seen as a model of pure catecholamine deficiency. Experimental evidence, reports of other disorders of biogenic amines, and our experience with this infant suggest that the symptoms of catecholamine deficiency in infancy can be broadly subdivided. Signs of dopamine deficiency include tremor, hypersensitivity to levadopa (L-dopa) therapy, oculogyric crises, akinesia, rigidity, and dystonia. Manifestations of norepinephrine deficiency include ptosis, miosis, profuse oropharyngeal secretions, and postural hypotension. Hypersensitivity to L-dopy was a particular management problem in this infant. (C) 2002 Movement Disorder Society.