Alpha-N-acetylgalactosaminidase deficiency type 1

Definition

Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 1 is a very rare and severe type of NAGA deficiency characterized by infantile neuroaxonal dystrophy.

Also known as NAGA deficiency type 1, Schindler disease type 1, Schindler disease, type III — per MONDO

Also identified as

• DOID 0112318 per MONDO
• OMIM 609241 per MONDO
• Orphanet 79279 per MONDO
• SCTID 879937000 per MONDO
• UMLS C1836544 per MONDO