黑尿症

黑尿症(Alkaptonuria,AKU)是一種罕見的遺傳性疾病,和酪氨酸苯丙氨酸的代謝障礙有關,是一種體染色體隱性遺傳,具有無法合成尿黑酸氧化酶的缺陷,這種酵素可降解有毒性的尿黑酸,這種酪氨酸副產物,會使軟骨區變成黑色,例如耳朵眼睛

黑尿症
类型amino acid metabolic disorder[*], 酪胺酸血症[*], other metabolic disease with skin involvement[*], pigmented conjunctival lesion[*]
分类和外部资源
醫學專科內分泌學
ICD-10E70.2
ICD-9-CM270.2
OMIM203500
DiseasesDB409
MedlinePlus
eMedicineped/64
Patient UK黑尿症
MeSHD000474
Orphanet56
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