2022年8月25日 · Galactosemia is an inherited metabolic disorder that makes your body unable to process a sugar called galactose. Galactosemia can be a problem for newborns because galactose is present in both breast milk and most baby formulas.

2000年2月4日 · Galactosemia caused by deficiency of the enzyme galactose-1-phosphate uridylyltransferase (GALT) may be divided into three clinical/biochemical phenotypes: (1) classic galactosemia, (2) clinical variant galactosemia, and (3) biochemical variant galactosemia (not covered in this GeneReview; see, for example, Duarte Variant Galactosemia). This ...

Galactosemia is an inborn disorder of carbohydrate metabolism characterized by the inability to metabolize galactose, a sugar contained in milk (the main source of nourishment for infants), and convert it into glucose, the sugar used by the body as ...

Pharmacological chaperones (PC) (small molecules which correct the folding of misfolded proteins) represent an exciting potential therapy for galactosemia. In theory, they would restore enzyme function, thus preventing downstream pathological consequences. In practice, no PCs have been identified for potential application in galactosemia.

Galactosemia is an inborn error of carbohydrate metabolism caused by a severe impairment of any of the enzymes involved in the Leloir pathway and comprises four subtypes. Type 1, also known as classic galactosemia (CG, OMIM 230400) …

2022年7月11日 · Galactosemia is an inborn disorder of carbohydrate metabolism characterized by the inability to metabolize galactose, a sugar contained in milk (the main source of nourishment for infants), and convert it into glucose, the sugar used by the body as the primary source of …

Galactosemia (GAL) (McKusick 230400) caused by deficiency of galactose-1-phosphate uridyltransferase (GALT: EC 2.7.712) is associated with an impaired ability to metabolize galactose, derived...

Galactosemia is an autosomal-recessive metabolic disorder characterized by abnormal galactose metabolism. Three different genes encode proteins involved in galactose metabolism: galactokinase (GALK), galactose-1-phosphate uridyl transferase (GALT), and UDP-galactose 4′epimerase (GALE).

2018年10月19日 · In type II galactosemia, loss of GALK1 activity prevents the formation of galactose 1-phosphate and results, instead, in a buildup of d-galactose. This may be (partly) the cause of the much...

Classical galactosaemia is a rare disorder of carbohydrate metabolism caused by galactose-1-phosphate uridyltransferase (GALT) deficiency (EC 2.7.7.12). The disease is life threatening if left untreated in neonates and the only available treatment option is a …