Carbohydrate-deficient glycoprotein syndrome type 1 with profound thrombocytopenia and normal phosphomannomutase and phosphomannose isomerase activities.
case_report · Level V
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Abstract
We report siblings with a variant of carbohydrate-deficient glycoprotein syndrome, type 1 (CDGS1), characterized by normal phosphomannomutase and phosphomannose isomerase activities, severe thrombocytopenia, and respiratory compromise. Each infant died after a course of intensive care, suggesting that infants with CDGS1 and normal phosphomannomutase and phosphomannose isomerase activities may have a more severe CDGS1 phenotype.
Medical subject headings
- Congenital Disorders of Glycosylation
- Infant, Premature, Diseases
- Mannose-6-Phosphate Isomerase
- Phosphotransferases (Phosphomutases)
- Thrombocytopenia