Carnosinemia

Definition

Carnosinemia is a very rare inherited disorder that presents with serum carnosinase deficiency.

Also known as Carnosinase deficiency, carnosinemia — per MONDO

Also identified as

• NCIT C125661 per MONDO
• OMIM 212200 per MONDO
• Orphanet 1361 per MONDO
• SCTID 410052008 per MONDO
• UMLS C3495555 per MONDO