homocarnosinosis
MeSH: C535328ORPHA: 2168
Overview
gamma-amino butyric acid metabolism disorder that is characterized by an excess of homocarnosine in the brain and has material basis in a deficiency of serum carnosinase in its ability to hydrolyze homocarnosine
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Classification & Codes
MeSH Code
C535328Orphanet Code
ORPHA:2168homocarnosinosis
| MeSH | C535328 |
| Orphanet | ORPHA:2168 |
| Treatments | 0 drug(s) |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO