316. Carnitine cycle disorder Disease details / Clinical trials / Drug dev / DR info
Clinical trials : 4 / Drugs : 10 - (DrugBank : 4) / Drug target genes : 2 - Drug target pathways : 11
| Previous names | - | ||
|---|---|---|---|
| Other names | - | ||
| Disease group | Metabolic diseases | ||
| Related info (in Japanese) | - | ||
| Designated intractable diseases (in Japanese) | Overview, Diagnostic criteria, etc. (docx), Clinical research form (pdf) | ||
| Specific pediatric chronic diseases, Japan (in Japanese) | 8-3-40. Organic cation transporter 2 (OCTN2) deficiency, Carnitine uptake defect | ||
| 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; | ||