一个患有酪氨酸羟化酶缺乏症的印度家庭。
An Indian Family with Tyrosine Hydroxylase Deficiency.
作者信息
Goswami Jyotindra Narayan, Sankhyan Naveen, Singhi Pratibha D
机构信息
Pediatric Neurology and Neurodevelopment Unit, Department of Pediatrics, Advanced Pediatrics Centre, PGIMER, Chandigarh, India. Correspondence to: Prof. Pratibha Singhi, APC, PGIMER, Chandigarh 160 012, India.
出版信息
Indian Pediatr. 2017 Jun 15;54(6):499-501. doi: 10.1007/s13312-017-1055-9.
BACKGROUND
Tyrosine Hydroxylase deficiency is a rare neurotransmitter disorder.
CASE CHARACTERISTICS
An Indian family with the disorder.
OBSERVATIONS
Phenotypic variation, elevated serum prolactin, genetic confirmation, and partial treatment-responsiveness.
MESSAGE
Tyrosine Hydroxylase deficiency is a treatable inborn error of metabolism and serum prolactin assists in diagnosis.
背景
酪氨酸羟化酶缺乏症是一种罕见的神经递质疾病。
病例特征
一个患有该疾病的印度家庭。
观察结果
表型变异、血清催乳素升高、基因确诊以及部分治疗反应。
启示
酪氨酸羟化酶缺乏症是一种可治疗的先天性代谢错误，血清催乳素有助于诊断。
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