Carbohydrate deficient glycoprotein syndrome

Below you will find more information about Carbohydrate deficient glycoprotein syndrome from Medigest. If you believe that you are suffering from any of the symptoms of Carbohydrate deficient glycoprotein syndrome it is important that you obtain an accurate diagnosis from a medical professional to ensure that you obtain the correct medication or treatment for your condition. There are medical conditions that carry similar symptoms associated with Carbohydrate deficient glycoprotein syndrome and therefore the information provided by Medigest is offered as a guideline only and should never be used in preference to seeking professional medical advice. The information relating to Carbohydrate deficient glycoprotein syndrome comes from a third party source and Medigest will not be held liable for any inaccuracies relating to the information shown.

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

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