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Levodopa is effective in the treatment of three Chinese Tyrosine hydroxylase (TH) deficiency children
Author(s) -
Hou Mei,
Yang Chengqing,
Hu Jingfei,
Guo Ya,
Liu Peipei,
Liu Yedan,
Song Jie,
Wei Wei,
Chen Zongbo
Publication year - 2019
Publication title -
international journal of developmental neuroscience
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.761
H-Index - 88
eISSN - 1873-474X
pISSN - 0736-5748
DOI - 10.1016/j.ijdevneu.2019.08.002
Subject(s) - tyrosine hydroxylase , levodopa , tyrosine , endocrinology , dopamine , medicine , catecholamine , tyrosine 3 monooxygenase , disease , parkinson's disease , biology , biochemistry
Tyrosine hydroxylase (TH) deficiency is a rare autosomal recessive inborn error of dopamine transmission, which the deficient gene is at the chromosome 11, also called‘Segawa Syndrome’. TH converts tyrosine into L‐DOPA, which is the direct precursor of catecholamine biosynthesis. TH deficiency causes a neurological disease with primary extrapyramidal signs and a variable response to L‐DOPA. We report three patients in China who were diagnosed with Tyrosine hydroxylase (TH) deficiency by genetic testing and clinical manifestations. After L‐DOPA treatment, their condition had sustained improvement.