[Diagnosis of aspartylglycosaminuria in a nine year-old girl admitted to pediatric psychiatry].
A nine year-old, mentally retarded girl was admitted because of growth retardation and recurrent respiratory infections. The lysosomal storage disease was ascertained by microscopic examination of bone marrow and gum biopsies. The diagnosis was provided by urine chromatography: the glycoasparagine Glc-Nac-Asn was characteristic of patients with aspartylglycosaminuria.
Loiseau-Corvez
M N
MN
Service de pédiatrie A, hôpital-Sud, Rennes, France.
Bonnaure
M
M
Le Berre
C
C
Jezequel
C
C
D000117:Acetylglucosamine / Q000031:analogs & derivatives* / Q000652:urine; D002648:Child; D002665:Child Psychiatry; D005260:Female; D006801:Humans; D001523:Mental Disorders / Q000150:complications; D008661:Metabolism, Inborn Errors / Q000150:complications / Q000175:diagnosis* / Q000523:psychology
C000009:N-acetylglucosaminylasparagine; D000117:Acetylglucosamine
Diagnostic d'une aspartylglucosaminurie chez une fillette de 9 ans admise en pédopsychiatrie.