Aspartylglycosaminuria is 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. more...
Deficiency of the aspartylglucosaminidase (1-aspart-amido-beta-N-acetylglucosamine aminohydrase (E.C.22.214.171.124), an enzyme which cleaves the N-acetyl-glucosamine-asparagine linkage of oligosaccharide chains in glycoprotein and glycopeptide metabolism. Biochemical tests show high urinary levels of aspartylglucosamine and low activity of aspartylglucosaminidase.
Originally, most early patients were of Finnish ancestry but later cases were reported in other groups. After trisomy 21 and fragile X syndrome, this is the most frequent multiple congenital anomaly/mental retardation syndrome.
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