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Galactosemia follows an autosomal recessive mode of inheritance that confers a deficiency in an enzyme responsible for adequate galactose degradation. Friedrich Goppert (1870–1927), a German physician, first described the disease in 1917, [1] with its cause as a defect in galactose metabolism being identified by a group led by Herman Kalckar ...
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 (/ ɡ ə ˈ l æ k t oʊ s /, galacto-+ -ose, "milk sugar"), sometimes abbreviated Gal, is a monosaccharide sugar that is about as sweet as glucose, and about 65% as sweet as sucrose. [3] It is an aldohexose and a C-4 epimer of glucose. [4] A galactose molecule linked with a glucose molecule forms a lactose molecule.
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.
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 ...
Heredity, also called inheritance or biological inheritance, is the passing on of traits from parents to their offspring; either through asexual reproduction or sexual reproduction, the offspring cells or organisms acquire the genetic information of their parents.
This is an accepted version of this page This is the latest accepted revision, reviewed on 27 February 2025. Science of genes, heredity, and variation in living organisms This article is about the general scientific term. For the scientific journal, see Genetics (journal). For a more accessible and less technical introduction to this topic, see Introduction to genetics. For the Meghan Trainor ...
Galactokinase is an enzyme (phosphotransferase) that facilitates the phosphorylation of α-D-galactose to galactose 1-phosphate at the expense of one molecule of ATP. [1] Galactokinase catalyzes the second step of the Leloir pathway , a metabolic pathway found in most organisms for the catabolism of α-D-galactose to glucose 1-phosphate . [ 2 ]