Disease Information for Aspartylglycosaminuria

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----------------------

Aspartylglycosaminuria; AGA; AGU; Aspartylglucosaminidase Deficiency; Aspartylglucosaminuria ; Glycosylasparaginase Deficiency;Aspartylglycosaminuria is a very rare genetic disorder that is concentrated among persons of Finnish decent, but is also found, even more rarely, in other populations around the world. It is an inborn error of metabolism, and one of the lysosomal storage diseases. It becomes apparent after the infant is a few months old. Major symptoms may include coarse facial features, spine and eye deformities, behavior problems and mental retardation; Aspartylglycosaminuria occurs as a result of deficient activity of a particular enzyme, leading to the accumulation of metabolic products in the body;[NORD 2005]----------------------------------------------

Reported in Finnish, spanish, italian, japanese popoulations especially consanguinous;

often angiokeratoma corporis diffusum assn.

cases: angiokeratoma corporis diffusum aspartylglucosaminuria; Mental retardation, recurrent infections, cardiomyopathy, and emotional lability were featuresCases: Radiographic changes in the hands were noted: thin epiphyses, broad "poorly modeled" (undertubulated) metacarpals, and peculiarly shaped carpal bones;enzymopathic methemoglobinemia and AGU.

excrete early large amounts of aspartylglucosamine in urine, biochemical detection is easy by urine chromatography; Nine patients had facial angiofibromas; Edema of the buccal mucosa and gingival overgrowths were more frequent in AGU patients than in controls;

[It was] concluded that bone marrow transplantation should not be encouraged for the treatment of patients with aspartylglucosaminuria after infancy; [OMIM 2005]

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