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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.
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.
In plants a micronutrient deficiency (or trace mineral deficiency) is a physiological plant disorder which occurs when a micronutrient is deficient in the soil in which a plant grows. Micronutrients are distinguished from macronutrients ( nitrogen , phosphorus , sulfur , potassium , calcium and magnesium ) by the relatively low quantities ...
The seven major classes of nutrients are carbohydrates, fats, fiber, minerals, proteins, vitamins, and water. [7] Nutrients can be grouped as either macronutrients or micronutrients (needed in small quantities). Carbohydrates, fats, and proteins are macronutrients, and provide energy. [7] Water and fiber are macronutrients, but do not provide ...
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 ...
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 ".
Mucolipidosis type I (ML I) is an inherited lysosomal storage disease that results from a deficiency of the enzyme alpha-N -acetyl neuraminidase . [1] The lack of this enzyme results in an abnormal accumulation of complex carbohydrates known as mucopolysaccharides, and of fatty substances known as mucolipids. Both of these substances accumulate ...