316. Carnitine cycle disorder Disease details / Clinical trials / Drug dev / DR info
Clinical trials : 4 / Drugs : 5 - (DrugBank : 2) / Drug target gene : 1 - Drug target pathways : 10
| Other names | - | ||
|---|---|---|---|
| Disease group | Metabolic diseases | ||
|
Domestic patients
Med expenses recipients (FY2023) |
20 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) |
| 316-1. | Carnitine palmitoyltransferase I deficiency;CPT1 deficiency; | 8-3-41. Carnitine palmitoyl transferase I deficiency | |
| 316-2. | Carnitine palmitoyltransferase II deficiency;CPT2 deficiency; | 8-3-42. Carnitine palmitoyl transferase II deficiency | |
| 316-3. | Carnitine-acylcarnitine translocase deficiency;CACT deficiency; | 8-3-43. Carnitine-acylcarnitine translocase (CACT) deficiency | |
| 316-4. | Carnitine transporter deficiency;OCTN-2 deficiency; | 8-3-40. Organic cation transporter 2 (OCTN2) deficiency, Carnitine uptake defect | |