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The two organs most commonly affected are the liver and the skeletal muscle. Glycogen storage diseases that affect the liver typically cause hepatomegaly and hypoglycemia; those that affect skeletal muscle cause exercise intolerance, progressive weakness and cramping. [1] Glucose-6-phosphate isomerase deficiency affects step 2 of glycolysis.
Generally, diseases outlined within the ICD-10 codes E73-E74 within Chapter IV: Endocrine, nutritional and metabolic diseases should be included in this category. Pages in category "Inborn errors of carbohydrate metabolism"
Inborn errors of metabolism are often referred to as congenital metabolic diseases or inherited metabolic disorders. [2] Another term used to describe these disorders is "enzymopathies". This term was created following the study of biodynamic enzymology , a science based on the study of the enzymes and their products.
Circumstances should provide clues fairly quickly for the new diseases causing severe hypoglycemia. All of the congenital metabolic defects, congenital forms of hyperinsulinism, and congenital hypopituitarism are likely to have already been diagnosed or are unlikely to start causing new hypoglycemia at this age.
A metabolic disorder is a disorder that negatively alters the body's processing and distribution of macronutrients, such as proteins, fats, and carbohydrates.Metabolic disorders can happen when abnormal chemical reactions in the body alter the normal metabolic process. [3]
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A vast amount of carbohydrate binding molecules depend on correct glycosylation for appropriate binding; the selectins, involved in leukocyte extravasation, is a prime example. Their binding depends on a correct fucosylation of cell surface glycoproteins .
This is a shortened version of the third chapter of the ICD-9: Endocrine, Nutritional and Metabolic Diseases, and Immunity Disorders. It covers ICD codes 240 to 279 . The full chapter can be found on pages 145 to 165 of Volume 1, which contains all (sub)categories of the ICD-9.