D-Galactose-1-phosphate is an intermediate in the intraconversion of glucose and uridine diphosphate galactose. [1] It is formed from galactose by galactokinase.The improper metabolism of galactose-1-phosphate is a characteristic of galactosemia. [2]

Galactose-1-phosphate (Gal1P) accumulates in the erythrocytes of patients with galactosemia due to GALT or GALE deficiency or in neonates with GALM deficiency. The quantitative measurement of Gal1P is useful for monitoring compliance with dietary therapy for either GALT or GALE deficiency.

2023年7月17日 · The GALT gene on chromosome 9p13 encodes for galactose-1-phosphate uridylyltransferase, which is responsible for metabolizing galactose-1-phosphate to UDP-galactose. Deficiency of the enzyme leads to classic galactosemia.

Galactose is phosphorylated to galactose-1-phosphate by the enzyme galactokinase. Galactose-1-phosphate is exchanged for the glucose-1-phosphate moiety of uridine diphosphate glucose (UDPG) to form uridine diphosphate galactose (UDPGal) by galactose-1-phosphate uridyl transferase (transferase or GALT).

Galactose is a disaccharide made up of glucose and galactose and is found in high concentrations in dairy products that contain lactose. Galactosemia denotes the elevated level of galactose in the blood and is found in 4 distinct inborn errors of galactose metabolism involving the following enzymes: galactose-1-phosphate uridyl transferase (GALT), galactokinase …

First described in a variant patient in 1935 by Mason and Turner, galactose-1-phosphate uridyltransferase (GALT) deficiency is the most common enzyme deficiency that causes...

One of the main alterations caused by GALT deficiency is the accumulation of galactose 1-phosphate (Gal-1P) in cells. Studies have suggested that Gal-1P exerts cellular toxicity, possibly by inhibiting cellular metabolism.

It is a systemic insecticide that acts by inhibiting cholinesterases, enzymes involved in transmitting nerve impulses. Chemically, it is an organophosphate, O,O -diethyl S - (ethylthio)methyl phosphorodithioate.

L-galactose 1-phosphate is a galactose phosphate compound with undefined anomeric stereochemistry having L-configuration and the phosphate group at the 1-position. It has a role as a fundamental metabolite. It is functionally related to a L-galactopyranose. It is a conjugate acid of a L-galactose 1-phosphate(2-).

2024年11月12日 · Type 1 galactosemia is the most common form of the disorder, also known as classic galactosemia. It is characterized by a GALT enzyme deficiency, which converts galactose-1-phosphate into glucose-1-phosphate. Duarte galactosemia is a milder disorder caused by a partial deficiency in the GALT enzyme.