337. Homocystinuria Disease details / Clinical trials / Drug dev / DR info
Clinical trials : 21 / Drugs : 22 - (DrugBank : 10) / Drug target genes : 4 - Drug target pathways : 32
| Other names | - | ||
|---|---|---|---|
| Disease group | Metabolic diseases | ||
|
Domestic patients
Med expenses recipients (FY2023) |
29 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) 337-01, 337-02, 337-03 | ||
| Specific pediatric chronic diseases, Japan (in Japanese) | 8-1-8. Homocystinuria | ||
| Subtypes | No. | Name | Specific pediatric chronic diseases, Japan (in Japanese) |
| 337-1. | Homocystinuria type I;Cystathionine beta-synthase deficiency;CBS deficiency; | 8-1-8. Homocystinuria | |
| 337-2. | Homocystinuria type II;Homocystinuria cblC type;Cobalamin C deficiency;cblC deficiency; | 8-1-8. Homocystinuria | |
| 337-3. | Homocystinuria type III;Methylenetetrahydrofolate reductase deficiency;MTHFR deficiency; | 8-1-8. Homocystinuria | |