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.
MeSH terms
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Congenital Disorders of Glycosylation / diagnosis*
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Congenital Disorders of Glycosylation / enzymology
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Congenital Disorders of Glycosylation / genetics
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Fatal Outcome
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Female
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Humans
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Infant, Newborn
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Infant, Premature, Diseases / diagnosis*
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Infant, Premature, Diseases / enzymology
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Infant, Premature, Diseases / genetics
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Male
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Mannose-6-Phosphate Isomerase / blood*
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Phosphotransferases (Phosphomutases) / blood*
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Pregnancy
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Prenatal Diagnosis
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Thrombocytopenia / diagnosis*
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Thrombocytopenia / enzymology
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Thrombocytopenia / genetics
Substances
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Mannose-6-Phosphate Isomerase
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Phosphotransferases (Phosphomutases)
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phosphomannomutase