240. Phenylketonuria Disease details / Clinical trials / Drug dev / DR info /
Clinical trials : 143 / Drugs : 90 - (DrugBank : 10) / Drug target gene : 1 - Drug target pathways : 5
| Other names | PKU; | ||
|---|---|---|---|
| Disease group | Metabolic diseases | ||
|
Domestic patients
Med expenses recipients (FY2023) |
298 patients Age distribution
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| Related info (in Japanese) | - | ||
| Clinical research form [April 1, 2025 ~] (in Japanese) | Overview, diagnostic criteria, etc. (pdf), Clinical research form (pdf) | ||
| Specific pediatric chronic diseases, Japan (in Japanese) | 8-1-1. Phenylketonuria; PKU; Hyperphenylalaninemia; HPA | ||
| Subtypes | No. | Name | Specific pediatric chronic diseases, Japan (in Japanese) |
| 240-1. | Phenylalanine hydroxylase deficiency;PAH deficiency; | ||
| 240-2. | Tetrahydrobiopterin deficiency;BH4 deficiency; | 8-11-122. Tetrahydrobiopterin deficiency | |
| 240-3. | BH4 reactive hyper pheemia; | ||