Aspartylglucosaminuria

Aspartylglukosaminuri

Engelsk definition

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.

Svenska synonymer

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Engelska synonymer

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