Early manifestations of the carbohydrate-deficient glycoprotein syndrome.
We diagnosed the carbohydrate-deficient glycoprotein syndrome in five children who were seen during their first year of life with failure to thrive, feeding difficulties, psychomotor retardation, hypotonia, esotropia, inverted nipples, lipodystrophy, pericardial effusion, and hepatic dysfunction. Steatosis was observed in liver biopsy specimens, and cerebellar hypoplasia was present on computed tomography. The disorder is characterized by a complex carbohydrate deficiency in certain glycoproteins, notably transferrin, which can be used as a marker of the disease. The carbohydrate-deficient glycoprotein syndrome may be an important and easily identifiable cause of failure to thrive and neurologic dysfunction in infancy. The presence of the disorder in siblings of different gender and the finding of biochemical abnormalities in some unaffected parents suggest an autosomal recessive inheritance.
Petersen
M B
MB
Department of Pediatrics, Rigshospitalet, Copenhagen, Denmark.
Brostrøm
K
K
Stibler
H
H
Skovby
F
F
D015415:Biomarkers / Q000032:analysis*; D002239:Carbohydrate Metabolism, Inborn Errors / Q000175:diagnosis*; D002531:Cerebellum / Q000002:abnormalities; D005183:Failure to Thrive; D005260:Female; D006023:Glycoproteins / Q000032:analysis*; D006801:Humans; D007223:Infant; D008297:Male; D011596:Psychomotor Disorders / Q000473:pathology*; D013577:Syndrome; D014168:Transferrin / Q000031:analogs & derivatives* / Q000032:analysis*
D015415:Biomarkers; D006023:Glycoproteins; D014168:Transferrin; C056759:carbohydrate-deficient transferrin