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This category reflects the organization of International Statistical Classification of Diseases and Related Health Problems, 10th Revision. Generally, diseases outlined within the ICD-10 codes E73-E74 within Chapter IV: Endocrine, nutritional and metabolic diseases should be included in this category.
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.
[citation needed] A list of common causes: Prolonged fasting Diarrheal illness in young children, especially rotavirus gastroenteritis; Idiopathic ketotic hypoglycemia; Isolated growth hormone deficiency, hypopituitarism; Insulin excess. Hyperinsulinism due to several congenital disorders of insulin secretion; Insulin injected for type 1 diabetes
Inherited metabolic disorders are one cause of metabolic disorders, and occur when a defective gene causes an enzyme deficiency. [6] These diseases, of which there are many subtypes, are known as inborn errors of metabolism. [7] Metabolic diseases can also occur when the liver or pancreas do not function properly. [3]
Vitamin poisoning is the condition of overly high storage levels of vitamins, which can lead to toxic symptoms. The medical names of the different conditions are derived from the vitamin involved: an excess of vitamin A, for example, is called "hypervitaminosis A".
A non-exhaustive list of causes of pathologic ketotic hypoglycemia is listed below: [2] Growth hormone deficiency; Glycogen storage diseases. Glycogen storage disease type IX is a particularly common cause of ketotic hypoglycemia, with the subtype IXa mainly affecting male children [6] Maple syrup urine disease; Prader-Willi syndrome
A congenital disorder of glycosylation (previously called carbohydrate-deficient glycoprotein syndrome) is one of several rare inborn errors of metabolism in which glycosylation of a variety of tissue proteins and/or lipids is deficient or defective. Congenital disorders of glycosylation are sometimes known as CDG syndromes.
A glycogen storage disease (GSD, also glycogenosis and dextrinosis) is a metabolic disorder caused by a deficiency of an enzyme or transport protein affecting glycogen synthesis, glycogen breakdown, or glucose breakdown, typically in muscles and/or liver cells.