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Aspartylglucosaminuria: Information for Families & Professionals

This area of our website is still being assembled.  In the interim we recommend the Online Mendelian Inheritance In Man's summary of published clinical findings on this disorder.

Clinical features of Aspartylglucosaminuria include the following:

	Severe mental retardation
	Recurrent infections
	Brachycepahaly
	Cataracts
	Club foot, genus valgus
	Coarse facial features
	Enlarged liver
	Excess growth of gum tissue
	Heart abnormalities
	Hypertelorism
	Joint laxity
	Spleen enlargement
	Testicle enlargement
	Large tongue
	Enlarged mouth (macrostomia)
	Presence of mucopolisaccharides and oligosaccharides in the urine
	Platylspondyly (flatness of vertebral bodies)
	Short, proportionate stature
	Spondylolisthesis (slippage of a vertebrae onto the one below)
	Storage cells and vacuolated lymphocytes
	Angiokeratoma (warty growths on feet/legs accompanied by thickening of the capillaries)

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Page title: Clinical Information on Aspartylglucosaminuria
URL: http://www.mannosidosis.org/aspartyl/aspclinic.htm
Webmaster: Paul Murphy
March 18, 2000