[Skeletal changes in 2 German children with aspartylglycosaminuria].
Two sibs showed delayed speech development, motor retardation and coarsening of their features during their second year of life. Radiological examination of the skeleton showed changes of dysostosis multiplex. Both children showed storage vacuoles in peripheral lymphocytes and a typical oligosaccharide-banded pattern on urinary chromatography. The diagnosis of aspartylglycosaminuria was confirmed by the demonstration of reduced activity of the enzyme aspartylglucosaminidase in leukocytes and in cultured fibroblasts. Treatment of this autosomal recessive inherited glycoprotein storage disease is not possible. Early recognition is important for genetic counselling of the family. This paper describes the first recognised cases in German literature.
Schmidt
H
H
Institut für Klinische Radiologie, Westfälische Wilhelms-Universität Münster.
Ziegler
R
R
Ullrich
K
K
von Lengerke
J H
JH
Sewell
A C
AC
D000581:Amidohydrolases / Q000172:deficiency*; D054880:Aspartylglucosaminuria; D002648:Child; D005260:Female; D005860:Germany, West; D006801:Humans; D009081:Mucolipidoses / Q000453:epidemiology* / Q000235:genetics
D000581:Amidohydrolases
Skelettveränderungen bei zwei deutschen Kindern mit Aspartylglucosaminurie.