- Aspartylglucosaminuria
Infobox_Disease
Name = PAGENAME
Caption =Aspartylglucosamine
DiseasesDB = 952
ICD10 = ICD10|E|77|1|e|70
ICD9 =
ICDO =
OMIM = 208400
MedlinePlus =
eMedicineSubj =
eMedicineTopic =
MeshID =Aspartylglucosaminuria (AGU), also called aspartylglycosaminuria, is a rare,
autosomal recessive cite journal |author=Aronson NN Jr. |title=Aspartylglycosaminuria: biochemistry and molecular biology |journal=Biochim Biophys Acta. |volume=1455 |issue=2-3 |pages=139–154 |year=1999 |pmid=10571008 ]metabolic disorder caused by deficient activity of the enzymeaspartylglucosaminidase .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 bymutation in a singlegene characterized by higher frequency inFinland than the rest of the world.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.Epidemiology
Aspartylglycosaminuria is most common in patients of Finnish ancestry, affecting about 1 in 17,000 people in Finland.
After
trisomy 21 andfragile X syndrome , this is the most frequent multiple congenital anomaly/mental retardation syndrome.cite web
last = Viitapohja
first = Kari
publisher = Finnish Information Center on Mental Retardation
title = Mental Retardation in Finland
url=http://www.sci.fi/~kup/engl/finmr.htm
accessdate = 2005-01-30 ]ee also
*
Inborn errors of metabolism References
External Links
*RareDiseases|5854|Aspartylglycosaminuria
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