Catalog

Alpha-N-acetylgalactosaminidase deficiency

No MMS code

Link to WHO Definition

Alpha-N-acetylgalactosaminidase deficiency – http://id.who.int/icd/entity/1647881428

Alpha-N-acetylgalactosaminidase (NAGA) deficiency is a lysosomal storage disease classified among the oligosaccharidoses or glycoproteinoses. The disorder is clinically heterogeneous. An infantile form (Schindler disease) presents with progressive hypotonia, extra-pyramidal signs and rapid psychomotor regression (myoclonic epileptic seizures, spastic quadriplegia, blindness, loss of contact with the outer world). The adult form (Kanzaki disease) presents with angiokeratomas similar to those found in Fabry disease and moderate intellectual deficit. Intermediate forms have also been observed with behavioural disturbances, epileptic seizures and variable psychomotor retardation.