Carbohydrate-deficient glycoprotein syndrome type 1 with profound thrombocytopenia and normal phosphomannomutase and phosphomannose isomerase activities

J Pediatr. 1998 Nov;133(5):697-700. doi: 10.1016/s0022-3476(98)70115-5.

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.

Publication types

  • Case Reports

MeSH terms

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

Substances

  • Mannose-6-Phosphate Isomerase
  • Phosphotransferases (Phosphomutases)
  • phosphomannomutase