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Galactosemia (British galactosaemia, from Greek γαλακτόζη + αίμα, meaning galactose + blood, accumulation of galactose in blood) is a rare genetic metabolic disorder that affects an individual's ability to metabolize the sugar galactose properly.
After the ingestion of lactose, most commonly from breast milk for an infant or cow milk and any milk from an animal, the enzyme lactase hydrolyzes the sugar into its monosaccharide constituents, glucose and galactose. In the first step of galactose metabolism, galactose is converted to galactose-1-phosphate (Gal-1-P) by the enzyme galactokinase.
Galactose epimerase deficiency has an autosomal recessive pattern of inheritance. Galactose epimerase deficiency is an autosomal recessive disorder, [5] which means the defective gene is located on an autosome, and two copies of the defective gene - one from each parent - are required to inherit the disorder. The parents of an individual with ...
Unlike classic galactosemia, which is caused by a deficiency of galactose-1-phosphate uridyltransferase, galactokinase deficiency does not present with severe manifestations in early infancy. Its major clinical symptom is the development of cataracts during the first weeks or months of life, as a result of the accumulation, in the lens, of ...
Duarte Galactosemia Inheritance: The above figure demonstrates the autosomal recessive mode of DG inheritance. Duarte galactosemia is inherited as a Mendelian autosomal recessive trait . A child with DG carries two different types of GALT alleles, one inherited from each parent.
Inborn errors of metabolism form a large class of genetic diseases involving congenital disorders of enzyme activities. [1] The majority are due to defects of single genes that code for enzymes that facilitate conversion of various substances into others ().
Women stand to inherit a fortune A 2024 Global Wealth Report from UBS revealed that an estimated $9 trillion is going to transfer intra-generationally in the coming years, with the funds moving ...
Lactose intolerance is due to the lack of the enzyme lactase in the small intestines to break lactose down into glucose and galactose. [3] There are four types: primary, secondary, developmental, and congenital. [1] Primary lactose intolerance occurs as the amount of lactase declines as people grow up. [1]