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.
Inga svenska synonymer finns.
Aspartylglucosaminurias — Glycoasparaginase Deficiency — Deficiencies, Glycoasparaginase — Deficiency, Glycoasparaginase — Glycoasparaginase Deficiencies — AGA Deficiency — AGA Deficiencies — Deficiencies, AGA — Deficiency, AGA — Aspartylglycosaminuria — Aspartylglycosaminurias — Aspartylglucosamidase Deficiency — Aspartylglucosamidase Deficiencies — Deficiencies, Aspartylglucosamidase — Deficiency, Aspartylglucosamidase