Thelansis

 Galactosemia represents a collection of uncommon hereditary metabolic disorders. These conditions are characterized by difficulties metabolizing galactose, leading to a spectrum of manifestations. This spectrum includes a severe and life-threatening form known as classic galactosemia, a rarer milder form referred to as galactokinase deficiency, which leads to cataract formation, and an exceedingly rare type called galactose epimerase deficiency, varying in severity and resembling the severe form of classic galactosemia. The underlying genetic mutations responsible for the various types of galactosemia occur in three genes: GALT, GALK1, and GALE. These genes, located on different chromosomes (9p13, 17q24, and 1p36), provide instructions for producing enzymes crucial for galactose metabolism. The dysfunction of these enzymes disrupts the Leloir galactose degradation pathway. All these disorders follow an autosomal recessive inheritance pattern. In infants, particularly those with cl...

  Galactosemia or Classic galactosemia is an autosomal recessive disorder of carbohydrate metabolism due to a severe deficiency of the galactose-1-phosphate uridyltransferase that catalyzes the conversion of galactose-1-phosphate and uridine diphosphate glucose to uridine diphosphate galactose and glucose-1-phosphate. Upon consuming lactose in the neonatal period, the affected infants develop a potentially lethal disease process with multiorgan involvement. Complications include feeding problems, failure to thrive, hepatocellular damage, bleeding, and E coli sepsis in untreated infants. If a lactose-restricted diet is provided during the first ten days of life, the neonatal signs usually quickly resolve, and the complications of liver failure, sepsis, and neonatal death are prevented; however, despite adequate treatment from an early age, children with classic galactosemia remain at increased risk for developmental delays, speech problems, and abnormalities of motor function. The...