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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.
Behavioral symptoms affect relations with other people and may include short attention span, intractability, and delays in achieving age-appropriate behaviors. Sociability with peers, however, is a strength in GLUT1 deficiency patients. [5] Movement symptoms relate to the quality of motor functions. Walking may be delayed or difficult because ...
Pages in category "Inborn errors of carbohydrate metabolism" ... Galactose-1-phosphate uridylyltransferase deficiency; Galactosemia; Galactosemic cataract;
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]
Traditionally the inherited metabolic diseases were classified as disorders of carbohydrate metabolism, amino acid metabolism, organic acid metabolism, or lysosomal storage diseases. [4] In recent decades, hundreds of new inherited disorders of metabolism have been discovered and the categories have proliferated.
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.
The animated feature adapted from the popular children's books crafts a lovely, bittersweet parable of parenting. In 'The Wild Robot,' machines, animals and new technology paint a very human ...
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". Iron overload disorders are diseases caused by the overaccumulation of iron in ...