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The carbohydrate deficient glycoprotein syndrome in three Japanese children
1Division of Child Neurology, Tottori University School of Medicine, Yonago, Japan.
Insights
This study identifies the first Japanese patients with carbohydrate-deficient glycoprotein syndrome, a genetic disorder affecting multiple glycoproteins. Diagnosis involved analyzing serum transferrin and alpha 1-antitrypsin levels.
Area of Science:
- Genetics
- Biochemistry
- Pediatrics
Background:
- Carbohydrate-deficient glycoprotein syndrome (CDGS) is a rare genetic disorder.
- CDGS is characterized by specific clinical features and multiple carbohydrate-deficient glycoproteins.
- Previous research identified similarities to disorders involving carbohydrate-deficient transferrin.
Observation:
- Three children from two families presented with a multisystemic disorder.
- Symptoms included mental retardation, nonprogressive ataxia, polyneuropathy, infantile hepatopathy, and growth retardation.
- Serum transferrin isoelectric focusing revealed increased disialotransferrin and asialotransferrin.
Findings:
- Neuraminidase treatment confirmed transferrin phenotypes consistent with parents.
- Carbohydrate-deficient fractions of serum alpha 1-antitrypsin were also detected.
- These findings confirmed the diagnosis of carbohydrate-deficient glycoprotein syndrome.
Implications:
- This report details the first Japanese pediatric patients diagnosed with CDGS.
- The study highlights the importance of glycoprotein analysis in diagnosing genetic disorders.
- Further research into CDGS pathogenesis and management is warranted.
Abstract:
We describe 3 children (from two families) with a multisystemic disorder characterized by mental retardation, nonprogressive ataxia, polyneuropathy, hepatopathy during infancy and growth retardation. Due to the clinical similarities to a recently recognized disorder associated with carbohydrate-deficient transferrin, we examined serum transferrin by means of isoelectric focusing, and found increases in disialo transferrin and asialotransferrin. Removal of sialic acid with neuraminidase revealed the same transferrin phenotypes as in their parents. Similarly, carbohydrate-deficient fractions of serum alpha 1-antitrypsin were also detected. Therefore, the diagnosis was made of the recently identified carbohydrate-deficient glycoprotein syndrome. This is a genetic disorder with distinctive clinical features and multiple carbohydrate-deficient glycoproteins. These seem to be the first reported Japanese patients with this syndrome.