Aspartylglucosaminuria
Synonyms
AGA Deficiencies
AGA Deficiency
Aspartylglucosamidase Deficiencies
Aspartylglucosamidase Deficiency
Aspartylglucosaminurias
Aspartylglycosaminuria
Aspartylglycosaminurias
Deficiencies, AGA
Deficiencies, Aspartylglucosamidase
Deficiency, AGA
Deficiency, Aspartylglucosamidase
Glycoasparaginase
Glycoasparaginases
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.