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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.
Galactokinase deficiency; Galactose-1-phosphate uridylyltransferase deficiency; Galactosemia; Galactosemic cataract; Glucose-6-phosphate dehydrogenase deficiency; Glucose-galactose malabsorption; Glycogen storage disease; Glycogen storage disease type 0; Glycogen storage disease type I; Glycogen storage disease type II; Glycogen storage disease ...
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.
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.
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".
According to estimates, subclinical vitamin A deficiency, characterized by low retinol levels, affects 190 million pre-school children and 19 million mothers worldwide. [ 121 ] The WHO estimates that 5.2 million of these children under five are affected by night blindness, which is considered clinical vitamin A deficiency. [ 122 ]
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 ...
Glucose-galactose malabsorption generally becomes apparent in the first few weeks of a baby's life. Affected infants experience severe diarrhea resulting in life-threatening dehydration, increased acidity of the blood and tissues (), and weight loss when fed breast milk or regular infant formulas.
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