loading...| Preferred Name |
苯丙酮尿症 / Phenylketonuria |
| Definitions |
Phenylketonuria is a hereditary metabolic disease, characterized by deficiency of phenylalanine hydroxylase, an enzyme necessary for the transformation of phenylalanine into tyrosine. Untreated, phenylketonuria leads to mental retardation, sometimes profound, as well as hypopigmentation. Dietary phenylalanine restriction allows patients to lead almost normal lives. |
| ID |
http://purl.bmicc.cn/ontology/ICD11CN/5C50.0 |
| definition |
Phenylketonuria is a hereditary metabolic disease, characterized by deficiency of phenylalanine hydroxylase, an enzyme necessary for the transformation of phenylalanine into tyrosine. Untreated, phenylketonuria leads to mental retardation, sometimes profound, as well as hypopigmentation. Dietary phenylalanine restriction allows patients to lead almost normal lives. |
| hasDbXref | |
| label |
苯丙酮尿症 / Phenylketonuria |
| mappingRelation | |
| notation |
5C50.0 |
| prefixIRI |
ICD11CN:C50.0 |
| prefLabel |
苯丙酮尿症 / Phenylketonuria |
| subClassOf |