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Early manifestations of the carbohydrate-deficient glycoprotein syndrome
M B Petersen1, K Brostrøm, H Stibler
1Department of Pediatrics, Rigshospitalet, Copenhagen, Denmark.
Insights
Carbohydrate-deficient glycoprotein syndrome (CDGS) is a genetic disorder diagnosed in infants with failure to thrive and neurological issues. Transferrin analysis can help identify this condition, which appears to be inherited in an autosomal recessive pattern.
Area of Science:
- Biochemistry
- Genetics
- Pediatrics
Background:
- Carbohydrate-deficient glycoprotein syndrome (CDGS) is a rare inherited metabolic disorder.
- It affects multiple organs and presents with diverse clinical manifestations in infancy.
Observation:
- Five infants diagnosed with CDGS presented with failure to thrive, feeding difficulties, psychomotor retardation, hypotonia, esotropia, inverted nipples, lipodystrophy, pericardial effusion, and hepatic dysfunction.
- Liver biopsy revealed steatosis, and CT scans showed cerebellar hypoplasia.
Findings:
- CDGS is characterized by a deficiency in complex carbohydrates of specific glycoproteins, with transferrin serving as a key diagnostic marker.
- Autosomal recessive inheritance is suggested by affected siblings of different genders and biochemical abnormalities in some parents.
Implications:
- CDGS is a significant and identifiable cause of failure to thrive and neurological dysfunction in infants.
- Early diagnosis through transferrin analysis can facilitate timely management and genetic counseling.
Abstract:
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.