an inherited disorder that causes a build-up of phenylalanine (an amino acid) in the blood. this can cause mental retardation, behavioral and movement problems, seizures, and delayed development. using a blood test, pku can easily be found in newborns, and treatment is a diet low in phenylalanine. also called phenylketonuria.
| human | 遺伝子名 | PKU |
| 同義語(エイリアス) | Phenylalanine-4-hydroxylase; Phe-4-monooxygenase; PKU1; PAH; phenylalanine hydroxylase (PAH); phenylalanine hydroxylase | |
| SWISS-PROTのID | SWISS-PROT:P00439 | |
| EntrezGeneのID | EntrezGene:5053 | |
| その他のDBのID | HGNC:8582 |
本文中に表示されているデータベースの説明