HubHip
:
Health
:
Conditions and Diseases
:
Nutrition and Metabolism Disorders
:
Inherited
:
Aspartylglucosaminuria
(3)
Description
Aspartylglycosaminuria is a classical lysosomal storage disorder caused by defective activity of the lysosomal hydrolase aspartylglucosaminidase. First presentation is usually between two and four years of age, such young patients often suffering from prolonged upper respiratory infections. Developmental of both motor and cognitive skills lags steadily behind that of normal children, and at the puberty AGU patients are mildly or moderately mentally retarded. With increasing age overall performance further declines; the life span of severely retarded individuals is 45 to 50 years.
Description
Aspartylglycosaminuria is a classical lysosomal storage disorder caused by defective activity of the lysosomal hydrolase aspartylglucosaminidase. First presentation is usually between two and four years of age, such young patients often suffering from prolonged upper respiratory infections. Developmental of both motor and cognitive skills lags steadily behind that of normal children, and at the puberty AGU patients are mildly or moderately mentally retarded. With increasing age overall performance further declines; the life span of severely retarded individuals is 45 to 50 years.
Aspartylglucosaminuria
Online Mendelian Inheritance in Man
(Site) - Detailing the state of knowledge of the genetic basis of AGU.
Aspartylglucosaminuria
(Site) - Pictures of typical Aspartylglucosaminuria symptoms from the Geneva Foundation for Medical Education and Research.
Aspartylglycosaminuria
(Site) - Lists signs and symptoms, asnd references.
Last update: 2008-05-06 13:32:14
Aspartylglucosaminuria
| Copyright 2008
HubHip.com