gamma-amino butyric acid metabolism disorder homocarnosinosis https://github.com/monarch-initiative/mondo/issues/4985 https://www.malacards.org/card/homocarnosinosis OMIM:236130 UMLS:C0268632 Homocarnosinase deficiency DOID:0060177 MONDO:0009351 icd11.foundation:166229372 GARD:0002730 ICD9:277.89 Homocarnosinosis is a metabolic defect characterized by progressive spastic diplegia, intellectual deficit and retinitis pigmentosa. This extremely rare disorder has been reported in only one family, namely a woman and three of her children. The latter showed progressive spastic diplegia, mental retardation and retinitis pigmentosa but their mother was symptom free. It is therefore uncertain whether there is a relationship between the biochemical defect and the clinical symptoms. Inheritance in the reported family seems to be autosomal dominant. MESH:C535328 Orphanet:2168 SCTID:61764000 homocarnosinosis MEDGEN:75703 inborn disorder of peptide metabolism