Aspartylglucosaminuria

From Wikipedia, the free encyclopedia

This article needs additional citations for verification. Please help improve this article by adding reliable references. Unsourced material may be challenged and removed. (March 2008)

Aspartylglucosaminuria Classification and external resources
Aspartylglucosamine
ICD-10	E77.1
OMIM	208400
DiseasesDB	952

Aspartylglucosaminuria (AGU), also called aspartylglycosaminuria, is a rare, autosomal recessive^[1] metabolic disorder caused by deficient activity of the enzyme aspartylglucosaminidase.

Contents 1 Diagnosis 2 Pathophysiology 3 Epidemiology 4 See also 5 References

[edit] Diagnosis

Clinical manifestations consist of psychomotor retardation, grotesque facial appearance, hepatosplenomegaly, ventral hernia and skeletal abnormalities. It is a member of Finnish disease heritage, a group of diseases or syndromes caused by mutation in a single gene characterized by higher frequency in Finland than the rest of the world.^[1]

[edit] Pathophysiology

Deficiency of aspartylglucosaminidase (1-aspart-amido-beta-N-acetylglucosamine aminohydrase - E.C.3.5.1.26), an enzyme which cleaves the N-acetyl-glucosamine-asparagine linkage of oligosaccharide chains in glycoprotein and glycopeptide metabolism, causes Aspartylglycosaminuria. Biochemical tests show high urinary levels of aspartylglucosamine and low activity of aspartylglucosaminidase.

[edit] Epidemiology

Aspartylglycosaminuria is most common in patients of Finnish ancestry, affecting about 2.5% to 3% of the population.^[1]

After trisomy 21 and fragile X syndrome, this is the most frequent multiple congenital anomaly/mental retardation syndrome.^{[citation needed]}

[edit] See also

• Inborn errors of metabolism

[edit] References

v • d • e Inborn error of carbohydrate metabolism - Lysosomal storage diseases: glycoprotein metabolic pathology - Glycoproteinosis, including mucolipidosis (E77, 272.7) Post-translational modification of lysosomal enzymes I-cell disease/II - Pseudo-Hurler polydystrophy/III Glycoprotein degradation Aspartylglucosaminuria - Fucosidosis - mannosidosis (Alpha-mannosidosis, Beta-mannosidosis) - Sialidosis/I Other Mucolipidosis type IV - Salla disease - Galactosialidosis see also enzymes