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中文Phenylketonuria (PKU)
Alias:
Phenylalanine Hydroxylase Deficiency
Pku
Pah Deficiency
Hyperphenylalaninemic Embryopathy
Maternal Hyperphenylalaninemia
Phenylketonuric Embryopathy
Maternal Phenylketonuria
Phenylketonurias
Hyperphenylalaninemia, Non-Pku Mild
Phenylketonuria, Maternal
Variant Phenylketonuria
Mild Phenylketonuria
Folling's Disease
Phenylalaninemia
Folling Disease
Maternal Pku
Variant Pku
Mild Pku
Mpku
Phenylalanine Hydroxylase Deficiency Disease
Non-Phenylketonuria Hyperphenylalaninemia
Oligophrenia Phenylpyruvica
Classical Phenylketonuria
Phenylketonuria Maternal
Pku - [phenylketonuria]
Hyperphenylalaninaemia
Hyperphenylalaninemia
Non-Pku Hpa
Hpa
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苯酮尿症，也称为苯丙氨酸羟化酶缺乏症，与经典苯酮尿症和高苯丙氨酸血症有关，症状包括背痛、头痛和疼痛。与苯酮尿症有关的重要基因是PAH（苯丙氨酸羟化酶），其相关通路/超级通路包括代谢和SLITs和ROBOs的表达调控。在该疾病的背景下提到了多巴胺和褪黑素。相关组织包括肝脏、心脏和皮肤，相关表型为氨基酸尿和异常心脏形态。
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