Catalog

Aspartylglucosaminuria

No MMS code

Link to WHO Definition

Aspartylglucosaminuria – http://id.who.int/icd/entity/2143470200

Aspartylglycosaminuria is an autosomal recessive lysosomal storage disease belonging to the oligosaccharidosis group that is due to deficiency in N-aspartylglycosaminidase. Clinical signs include slowly developing intellectual deficit, beginning with clumsiness, late speech, and hyperkinesia, mild facial dysmorphism, and slight kyphoscoliosis.