251. Urea cycle disorder Disease details / Clinical trials / Drug dev / DR info
Clinical trials : 68 / Drugs : 50 - (DrugBank : 19) / Drug target genes : 2 - Drug target pathways : 4
| Other names | - | ||
|---|---|---|---|
| Disease group | Metabolic diseases | ||
|
Domestic patients
Med expenses recipients (FY2023) |
104 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) | - | ||
| Subtypes | No. | Name | Specific pediatric chronic diseases, Japan (in Japanese) |
| 251-1. | N-acetylglutamate synthase deficiency;NAGS deficiency; | 8-1-11. N-acetylglutamate synthetase deficiency | |
| 251-2. | Carbamoyl phosphate synthetase I deficiency;CPS1 deficiency; | 8-1-12. Carbamoylphosphate synthetase deficiency | |
| 251-3. | Ornithine transcarbamylase deficiency;OTC deficiency; | 8-1-13. Ornitine transcarbamylase deficiency | |
| 251-4. | Classic citrullinemia;Citrullinemia type I; | 8-1-14. Argininosuccinate synthetase deficiency; Citrullinaemia type 1 | |
| 251-5. | Argininosuccinic aciduria; | 8-1-15. Argininosuccinic aciduria | |
| 251-6. | Argininemia; | 8-1-16. Hyperarginemia | |
| 251-7. | Hiperornitinemia-hiperamonemia-homocitrulinuria syndrome;HHH syndrome; | 8-1-18. Hyperornithinemia | |