Aspartylglucosaminuria: A rare glycoprotein metabolism disorder caused by a deficiency of an enzyme called aspartylglucosaminidase. Patients tend to develop normally during the first few years of life and development continues slowly until adolescence when mental retardation becomes progressively worse. More detailed information about the symptoms, causes, and treatments of Aspartylglucosaminuria is available below.
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Prognosis for Aspartylglucosaminuria: Patients tend to survive until mid-adulthood. Mental retardation and disability may be severe by this stage.
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An inborn error of metabolism caused by deficient activity of the enzyme aspartylglucosaminidase. Clinical manifestations consist of psychomotor retardation, coarse facies, hepatosplenomegaly, ventral hernia, and skeletal abnormalities. - (Source - Diseases Database)
Aspartylglucosaminuria is listed as a "rare disease" by the Office of
Rare Diseases (ORD) of the National Institutes of Health
(NIH). This means that Aspartylglucosaminuria, or a subtype of Aspartylglucosaminuria,
affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)
Ophanet, a consortium of European partners,
currently defines a condition rare when it affects 1 person per 2,000.
They list Aspartylglucosaminuria as a "rare disease".
Source - Orphanet
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