[Aspartylglucosaminuria. Clinical description of 2 German patients]

Monatsschr Kinderheilkd. 1989 Aug;137(8):454-7.
[Article in German]

Abstract

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.

Publication types

  • Case Reports
  • English Abstract

MeSH terms

  • Abnormalities, Multiple / enzymology
  • Abnormalities, Multiple / genetics*
  • Acetylglucosamine
  • Adolescent
  • Amidohydrolases
  • Aspartylglucosaminuria*
  • Child
  • Child Development
  • Female
  • Fibroblasts / enzymology
  • Humans
  • Intellectual Disability / enzymology
  • Intellectual Disability / genetics*
  • Leukocytes / enzymology
  • Risk Factors

Substances

  • N-acetylglucosaminylasparagine
  • Amidohydrolases
  • Acetylglucosamine