240. Phenylketonuria Disease details / Clinical trials / Drug dev / DR info /
Clinical trials : 182 / Drugs : 144 - (DrugBank : 12) / Drug target genes : 3 - Drug target pathways : 5
| Other names | PKU;Hyperphenylalaninemia;HPA;Phenylalanine hydroxylase deficiency;PAH deficiency;Tetrahydrobiopterin deficiency;BH4 deficiency;BH4 reactive hyper pheemia; | ||
|---|---|---|---|
| Disease group | Metabolic diseases | ||
|
Domestic patients
Med expenses recipients, FY2024 (corrected) (in Japanese) |
314 patients Age distribution
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| Clinical research form (in Japanese) MHLW Intractable Diseases, FY2026 (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 | ||
| 8-11-122. Tetrahydrobiopterin deficiency | |||
| Sub-diseases (Clinical research forms may not be available for all sub-diseases.) | - | ||