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Glossary for Congenital disorder of glycosylation, type In

  • Congenital Disorder of Glycosylation, Type 1n: A very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type 1N has a defect in the RFT1 gene which results in decreased activity of an enzyme called dolichol-phosphage-mannose (Dol-P-M).
  • Developmental problems: Physical or mental development difficulty.
  • Enlarged liver: Swelling of the liver.
  • Genetic Disease: Any disease that is handed down to oneself through the chromosomes of ones parents
  • Metabolic disorders: Disorders that affect the metabolic system in human
  • Reduced muscle tone: Reduced muscle tone is a loss of or less than normal amount of muscle tightness.
  • Seizures: A rare syndrome characterized by mental retardation, seizures and high levels of hydroxylysine in the urine.

 

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