Aspartylglycosaminuria: a review.

doi:10.1186/s13023-016-0544-6

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Article

Aspartylglycosaminuria: a review.

Orphanet journal of rare diseases - 1 Dec 2016

Arvio Maria, Mononen Ilkka

Abstract excerpt

Aspartylglucosaminuria (AGU), a recessively inherited lysosomal storage disease, is the most common disorder of glycoprotein degradation with a high prevalence in the Finnish population. It is a lifelong condition affecting on the patient's appearance, cognition, adaptive skills, physical growth, personality, body structure, and health. An infantile growth spurt and development of macrocephalia associated to...

Topics

Acetylglucosamine
Animals
Aspartylglucosaminuria
Aspartylglucosylaminase
Glycoproteins
Humans
Lysosomal Storage Diseases
Mutation

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PMID: 27906067
DOI: 10.1186/s13023-016-0544-6
PMCID: PMC5134220

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