A galactosemia é conhecida como um erro inato do metabolismo, a qual incapaz de digerir galactose, açúcar presente no leite materno, que principal fonte nutrientes para os lactentes. O tratamento realizado nos primeiros meses vida consiste em suspender ingestão utilizando as fórmulas infantis. estudo se configura uma revisão integrativa literatura. Utilizou materiais científicos publicados form...

OBJECTIVE Classical galactosemia (McKusick 230400) is an autosomal recessive disorder of galactose metabolism caused by a deficiency of galactose-1-phosphate uridyltransferase (EC 2.7.712). Treatment, consisting of a severe restriction of dietary galactose, is life saving, but most patients develop abnormalities despite this diet. The aim of this study was to study the influence of galactosemia...

Galactosemia is an autosomal recessive disorder caused by deficient or absent activities of one of the three enzymes involved in the galactose metabolic pathway. The predominant form is classic type galactosemia caused by severe reduction or absence of the galactose1-phosphate uridyl transferase (GALT) enzyme. Coexistence of extrahepatic biliary atresia (EHBA) with Duarte 1 and 2 variants of ga...

Type I galactosemia is an inborn error resulting from mutations on both alleles of the GALT gene, which leads to the absence or deficiency of galactose-1-phosphate uridyltranseferase (GALT), the second of three enzymes catalyzing the conversion of galactose into glucose. On the basis of residual GALT activity, Type I galactosemia is classified into severe "Classical" and mild "Duarte" phenotype...

Classic galactosemia is an autosomal recessive disorder of carbohydrate metabolism, due to a severe deficiency of the enzyme, galactose-1-phosphate uridyltransferase (GALT), that catalyzes the conversion of galactose-1-phosphate and uridine diphosphate glucose (UDPglucose) to uridine diphosphate galactose (UDPgalactose) and glucose-1-phosphate. Upon consumption of lactose in the neonatal period...

Galactosemia in newborns and infants is associated with the following symptoms: jaundice, hepatomegaly, failure to thrive, feeding difficulties, hypoglycemia, convulsions, lethargy, amino-aciduria, cataracts, hepatic cirrhosis, ascites, and mental retardation. If the preliminary evaluation indicates galactosemia, there is high risk for E. coli sepsis and death. Strong consideration should there...

Galactose-1-phosphate uridyl transferase (GALT) deficiency causes classical galactosemia in humans. Mice deficient in this enzyme were created by gene targeting. GALT-deficient mice develop biochemical features similar to those seen in humans with GALT deficiency, but fail to develop the pattern of acute toxicity seen in newborns with classical galactosemia. This study suggests that alternative...

Galactosemia is an autosomal recessive disorder of Galactose metabolism, characterized by inability to metabolize galactose. Three enzymes are principally involved in the metabolic conversion of galactose to glucose: a galactose specific kinase (GALK), galactose-1-phosphate uridyl transferase (GALT) and uridine diphosphate galactose-4-epimerase (GALE). On the basis of defective enzyme the disea...

Galactosemia is an inborn error of galactose metabolism, caused by an abnormality in the conversion of galactose and uridine diphosphoglucose to glucose-1-phosphate and uridine diphosphogalactose through the action of 3 sequential enzymes: galactokinase (GALK), galactose- 1-phosphate uridyltransferase (GALT), and uridine phosphogalactose 4-epimerase (GALE). The advent of newborn screening broug...