[Aspartylglucosaminuria. Clinical description of 2 German patients].
Aspartylglucosaminuria was diagnosed for the first time in two german patients. First sign of the disease was retardation of speech at the age of two years. Later on, motor and mental retardation as well as a coarse face developed. Radiological examination revealed progressive changes of the thoracic and lumbar spine with wedge-shaped vertebral bodies as well as stubby metacarpalia and cystic changes of carpalia. Coarse face developed earlier than in the finnish patients described earlier. Thin cortex of long bones and cortical thickness of metacarpalia was not found in our patients.
Ziegler
R
R
Kinderklinik, Westfälischen Wilhelms-Universität Münster.
Schmidt
H
H
Sewell
A C
AC
Weglage
J
J
von Lengerke
J H
JH
Ullrich
K
K
D000015:Abnormalities, Multiple / Q000201:enzymology / Q000235:genetics*; D000117:Acetylglucosamine / Q000031:analogs & derivatives; D000293:Adolescent; D000581:Amidohydrolases; D054880:Aspartylglucosaminuria; D002648:Child; D002657:Child Development; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D006801:Humans; D008607:Intellectual Disability / Q000201:enzymology / Q000235:genetics*; D007962:Leukocytes / Q000201:enzymology; D012307:Risk Factors
C000009:N-acetylglucosaminylasparagine; D000581:Amidohydrolases; D000117:Acetylglucosamine
Aspartylglucosaminurie. Klinische Beschreibung von zwei deutschen Patienten.