Aspartylglucosaminuria

"Aspartylglucosaminuria" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure, which enables searching at various levels of specificity.

MeSH information

Definition | Details | More General Concepts | Related Concepts | More Specific Concepts

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.

Descriptor ID	D054880
MeSH Number(s)	C16.320.565.595.100 C18.452.648.595.100
Concept/Terms	Aspartylglucosaminuria Aspartylglucosaminuria Aspartylglucosaminurias Glycoasparaginase Aspartylglycosaminuria Aspartylglycosaminurias

Below are MeSH descriptors whose meaning is more general than "Aspartylglucosaminuria".

Diseases [C]
Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Genetic Diseases, Inborn [C16.320]
Metabolism, Inborn Errors [C16.320.565]
Lysosomal Storage Diseases [C16.320.565.595]
Aspartylglucosaminuria [C16.320.565.595.100]
Nutritional and Metabolic Diseases [C18]
Metabolic Diseases [C18.452]
Metabolism, Inborn Errors [C18.452.648]
Lysosomal Storage Diseases [C18.452.648.595]
Aspartylglucosaminuria [C18.452.648.595.100]

Below are MeSH descriptors whose meaning is related to "Aspartylglucosaminuria".

Below are MeSH descriptors whose meaning is more specific than "Aspartylglucosaminuria".

publications

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