Department of Neurology, Haukeland University Hospital, Bergen, Norway.
J Parkinsons Dis. 2011;1(1):119-22. doi: 10.3233/JPD-2011-11006.
Tyrosine hydroxylase (TH) is a tetrahydrobiopterin (BH4) dependent enzyme that catalyses the conversion of L-tyrosine to L-dopa, the rate-limiting step in the biosynthesis of dopamine. Autosomal recessive mutations in the TH gene cause impaired TH activity and are associated with phenotypes ranging from autosomal recessive dopa-responsive dystonia (DRD) to progressive infantile encephalopathy. Herein, we present a patient with TH-deficiency due to two compound heterozygous missense mutations in the TH/gene, one of which is novel (p.R441P). A clinical update on TH-deficiency and clues on how to achieve a timely diagnosis of this highly treatable disorder is provided.
酪氨酸羟化酶（TH）是一种四氢生物蝶呤（BH4）依赖性酶，催化 L-酪氨酸转化为 L-多巴，这是多巴胺生物合成的限速步骤。TH 基因的常染色体隐性突变导致 TH 活性受损，并与从常染色体隐性多巴反应性肌张力障碍（DRD）到进行性婴儿脑白质病等表型相关。在此，我们介绍了一位由于 TH 基因中的两个复合杂合错义突变导致 TH 缺乏的患者，其中一个是新的（p.R441P）。提供了关于 TH 缺乏的临床最新信息以及如何及时诊断这种高度可治疗疾病的线索。
