[Mannosidosis: a simple diagnosis].
Mannosidosis is a new and rare disorder. The following clinical symptoms should evolve its diagnosis: facial dysmorphy with slight mental retardation; bone deformities with abnormal L2 vertebra and craniosynostosis; biological abnormalities with vacuolized lymphocytes and absence of urinary mucopolysaccharides. Definite diagnosis relies upon detection of mannose oligosaccharides in the urine and serum deficiency of alpha-D-mannosidase.
D000293:Adolescent; D002239:Carbohydrate Metabolism, Inborn Errors / Q000150:complications / Q000175:diagnosis*; D002648:Child; D002675:Child, Preschool; D003398:Craniosynostoses / Q000209:etiology; D004186:Disaccharidases / Q000172:deficiency*; D005145:Face / Q000002:abnormalities; D005260:Female; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000209:etiology; D008159:Lumbar Vertebrae / Q000002:abnormalities; D008297:Male; D008358:Mannose / Q000378:metabolism*; D008361:Mannosidases / Q000172:deficiency*
D004186:Disaccharidases; D008361:Mannosidases; D008358:Mannose
La mannosidose: un diagnostic simple