Search results
Results from the WOW.Com Content Network
HFI is caused by a deficiency of fructose 1,6-biphosphate aldolase in the liver, kidney cortex and small intestine. Infants and adults are asymptomatic unless they ingest fructose or sucrose. [citation needed] Deficiency of hepatic fructose 1,6-biphosphate (FBPase) causes impaired gluconeogenesis, hypoglycemia and severe metabolic acidemia.
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.
HPLC (High Performance Liquid Chromatography) can detect certain genetic variants and potential liver diseases affecting CDT. Used with other tests, such as gamma glutamyl transferase (GGT), aspartate aminotransferase (AST), and alanine aminotransferase (ALT), carbohydrate-deficient transferrin can be a useful tool in identifying problem ...
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]
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.
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 .
It can lead to diseases such as cardiovascular disease and diabetes. Obesity is a condition in which the natural energy reserve, stored in the fatty tissue of humans and other mammals, is increased to a point where it is associated with certain health conditions or increased mortality.
HFI is caused by a deficiency of aldolase B. [5] A deficiency of aldolase B results in an accumulation of fructose-1-phosphate, and trapping of phosphate (fructokinase requires adenosine triphosphate (ATP)). The downstream effects of this enzyme block are the inhibition of glucose production and reduced regeneration of ATP. [5]