A recessively inherited, progressive lysosomal storage disease caused by a deficiency of GLYCOSYLASPARAGINASE activity. The lack of this enzyme activity results in the accumulation of N-acetylglucosaminylasparagine (the linkage unit of asparagine-linked glycoproteins) in LYSOSOMES.
Also Known As:
AGA Deficiency; Aspartylglucosamidase Deficiency; Aspartylglycosaminuria; Glycoasparaginase Deficiency; AGA Deficiencies; Aspartylglucosamidase Deficiencies; Aspartylglucosaminurias; Aspartylglycosaminurias; Deficiencies, AGA; Deficiencies, Aspartylglucosamidase; Deficiencies, Glycoasparaginase; Deficiency, AGA; Deficiency, Aspartylglucosamidase; Deficiency, Glycoasparaginase; Glycoasparaginase Deficiencies