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Therapeutic brain modulation with targeted large neutral amino acid supplements in the Pah-enu2 phenylketonuria mouse model
phenylketonuria inborn error of metabolism large neutral amino acids mouse model neurotransmitters brain biochemistry treatment
2018/12/18
Background: Phenylketonuria treatment consists mainly of a Phe-restricted diet, which leads to suboptimal neurocognitive and psychosocial outcomes. Supplementation of large neutral amino acids (LNAAs)...
Glycomacropeptide for nutritional management of phenylketonuria: a randomized, controlled, crossover trial
inborn errors of amino acid metabolism phenylalanine tyrosine threonine medical food sapropterin dihydrochloride executive function
2018/12/3
Background: To prevent cognitive impairment, phenylketonuria requires lifelong management of blood phenylalanine (Phe) concentration with a low-Phe diet. The diet restricts intake of Phe from natural ...
苯丙酮尿症分子遗传学研究进展Advances in the Studies of Molecular Heredity of Phenylketonuria
苯丙酮尿症 苯丙氨酸羟化酶 基因 分子遗传
2008/1/8
摘要
苯丙酮尿症是由于苯丙氨酸羟化酶基因突变引起的常染色体隐性遗传病。文章综述了苯丙酮尿症中的苯丙氨酸羟化酶基因的定位、结构、突变、调控以及突变基因的体外表达和苯丙氨酸羟化酶的三维结构特点等分子遗传学进展，阐述了苯丙氨酸羟化酶基因的突变对苯丙氨酸羟化酶的体外表达及其三维结构的影响, 以及部分基因型与表型相关的分子机制。 Abstract: Phenylketonuria(PKU) is one ...