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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.
Ornithine transcarbamylase deficiency also known as OTC deficiency is the most common urea cycle disorder in humans. Ornithine transcarbamylase , the defective enzyme in this disorder, is the final enzyme in the proximal portion of the urea cycle , responsible for converting carbamoyl phosphate and ornithine into citrulline .
Malnutrition occurs when an organism gets too few or too many nutrients, resulting in health problems. [11] [12] Specifically, it is a deficiency, excess, or imbalance of energy, protein and other nutrients which adversely affects the body's tissues and form.
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.
Elements present at low levels may cause deficiency symptoms, and toxicity is possible at levels that are too high. Furthermore, deficiency of one element may present as symptoms of toxicity from another element, and vice versa. An abundance of one nutrient may cause a deficiency of another nutrient.
Carbohydrate metabolism is the whole of the biochemical processes responsible for the metabolic formation, breakdown, and interconversion of carbohydrates in living organisms. Carbohydrates are central to many essential metabolic pathways . [ 1 ]
2-methylbutyryl-coenzyme A dehydrogenase deficiency, 3-alpha-hydroxyacyl-CoA dehydrogenase deficiency, 3-Methylcrotonyl-CoA carboxylase deficiency, ACAD9 deficiency, Alpers' syndrome, Carbohydrate-deficient glycoprotein syndrome type 1b, Carnitine palmitoyltransferase I deficiency, Carnitine-acylcarnitine translocase deficiency, Cleft lip ...
In setting human nutrient guidelines, government organizations do not necessarily agree on amounts needed to avoid deficiency or maximum amounts to avoid the risk of toxicity. [44] [45] [46] For example, for vitamin C, recommended intakes range from 40 mg/day in India [47] to 155 mg/day for the European Union. [48]