Definition:
It is a medical condition that is an unusual genetic metabolic disorder where in the where malfunctioning carbohydrate compounds are connected to glycoproteins and results to damaged glycoprotein function. Carbohydrate deficient glycoprotein syndrome involves a defect in the phosphomannomutase enzyme and involves most body systems in particular the nervous system and the function of the liver.
Prevalence:
Carbohydrate deficient glycoprotein syndrome is categorized as a “rare disease” according to the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This indicates that Carbohydrate deficient glycoprotein syndrome involves not more than 200,000 individuals in the US population.
Symptoms and Signs:
The list below shows several known symptoms for Carbohydrate deficient glycoprotein syndrome:
Dysmorphic features
Hypotonia – weakness of the muscle
Psychomotor retardation
Strabismus – causes the eyes to be misaligned that result to both eyes looking in different direction.
Disease of the liver
There may be other symptoms that can be identified by the physician.
Classifications:
Hierarchical classifications
The lists below try to categorize Carbohydrate deficient glycoprotein syndrome where in each line is a subset of the next:
Hierarchy of MeSH 2007:
1. Congenital, Hereditary, and Neonatal Diseases and Abnormalities
a. Genetic Diseases, Inborn
i. Inborn Errors, Metabolism
1. Carbohydrate Metabolism, Inborn Errors
a. Carbohydrate-Deficient Glycoprotein SyndromeHierarchy of MeSH 2007:
1. Diseases: Nutritional/Dietary and Metabolic
a. Metabolic Diseases/ailments
i. Inborn Errors, Metabolism
1. Carbohydrate Metabolism, Inborn Errors
a. Carbohydrate-Deficient Glycoprotein Syndrome
:
carbohydratedeficientglycoproteinsyndrome
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