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Entry | Name | Description | Category | Pathway | Gene |
---|---|---|---|---|---|
H00167 |
Phenylketonuria Hyperphenylalaninemia |
Phenylketonuria (PKU) is one of the most common inborn errors of metabolism marked by a deficiency of the hepatic enzyme phenylalanine hydroxylase (PAH), leading to a toxic accumulation of phenylalanine ... | Inherited metabolic disorder |
(PKU) PAH [HSA:5053] [KO:K00500] (HPABH4A) PTS [HSA:5805] [KO:K01737] (HPABH4B) GCH1 [HSA:2643] [KO:K01495] (HPABH4C) QDPR [HSA:5860] [KO:K00357] (HPABH4D) PCBD1 [HSA:5092] [KO:K01724] (HPANBH4) DNAJC12 [HSA:56521] [KO:K09532] |
[ KEGG | DISEASE | DRUG | MEDICUS ] |