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Fructose-1-phosphate is metabolized by aldolase B into dihydroxyacetone phosphate and glyceraldehyde. 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 ...
This enzyme deficiency results in an accumulation of fructose-1-phosphate, which inhibits the production of glucose and results in diminished regeneration of adenosine triphosphate. Clinically, patients with hereditary fructose intolerance are much more severely affected than those with essential fructosuria, with elevated uric acid , growth ...
Fructose-1-phosphate is a derivative of fructose. It is generated mainly by hepatic fructokinase but is also generated in smaller amounts in the small intestinal mucosa and proximal epithelium of the renal tubule. [1] It is an important intermediate of glucose metabolism.
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.
In particular increased fructose-1,6-bisphosphate accumulation can have inhibitory effects on glucose-6-phosphate dehydrogenase, an essential enzyme of this pathway. [6] Lactate accumulation has also been noted in some patients, potentially linked to reciprocal stimulation of pyruvate kinase, a key enzyme in lactic acid fermentation. [8]
The first step in the metabolism of fructose is the phosphorylation of fructose to fructose 1-phosphate by fructokinase (Km = 0.5 mM, ≈ 9 mg/100 ml), thus trapping fructose for metabolism in the liver.
This leads to phosphate depletion within the cells, and also in the blood. Without phosphate, ATP cannot be made, and many cell processes cannot occur. High levels of glucagon will tend to release fatty acids from adipose tissue , and this will combine with glycerol that cannot be used in the liver, to make triacylglycerides causing a fatty liver .
Coenzyme Q cytochrome c reductase deficiency, Deficiency in enzymes of fat oxidation, Fructose intolerance, Galactosemia, Glycogen debranching deficiency, Hypoketonemic hypoglycemia, Ketotic hypoglycemia of infancy, Mcquarrie type infantile idiopathic hypoglycemia, Organic acidemia, Phosphoenolpyruvate carboxykinase (PEPCK) deficiency, Urea ...