CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME TYPE-1 WITH PROFOUND THROMBOCYTOPENIA AND NORMAL PHOSPHOMANNOMUTASE AND PHOSPHOMANNOSE ISOMERASE ACTIVITIES

We report siblings with a variant of carbohydrate-deficient glycoprote in syndrome, type 1 (CDGS1), characterized by normal phosphomannomutas e and phosphomannose isomerase activities, severe thrombocytopenia, an d respiratory compromise. Each infant died after a course of intensive care, suggesting that infants with CDGS1 and normal phosphomannomutas e and phosphomannose isomerase activities may have a more severe CDGS1 phenotype.