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DeCS
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Descriptor English:
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Aspartylglucosaminuria
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Descriptor Spanish:
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Aspartilglucosaminuria
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Descriptor Portuguese:
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Aspartilglucosaminúria
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Synonyms English:
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AGA Deficiency
Aspartylglucosamidase Deficiency
Aspartylglycosaminuria
Glycoasparaginase
AGA Deficiencies
Aspartylglucosamidase Deficiencies
Aspartylglucosaminurias
Aspartylglycosaminurias
Deficiencies, AGA
Deficiencies, Aspartylglucosamidase
Deficiency, AGA
Deficiency, Aspartylglucosamidase
Glycoasparaginases
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Tree Number:
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C16.320.565.595.100
C18.452.648.595.100
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Definition English:
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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. |
History Note English:
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2009
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Allowable Qualifiers English:
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Record Number:
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53102
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Unique Identifier:
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D054880
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Occurrence in VHL:
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Similar:
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DeCS CID-10 SciELO LILACS LIS
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