| Metadata | |
|---|---|
| ID | DOID:0060177 |
| Name | homocarnosinosis |
| Definition | A 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. http://en.wikipedia.org/wiki/Carnosinemia, http://www.pndassoc.org/atf/cf/%7BC3CD1AA0-3DB0-43D2-ADA5-F1509D3000DE%7D/Pearl.pdf |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Parent Relationships |
is_a brain disease |