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Aspartylglucosaminuria

rare

Aspartylglycosaminuria (AGU) is an autosomal recessive lysosomal storage disease belonging to the oligosaccharidosis group (also called glycoproteinosis).

Identifiers
MONDO:0008830 OMIM:208400Orphanet:93
Causal genes
AGA
Part of
Lysosomal storage disease with skeletal involvementOligosaccharidosis
Also known as
AGU · Aspartylglucosamidase (AGA) deficiency · aspartylglucosaminidase deficiency · Aspartylglycosaminuria · glycosylasparaginase deficiency

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