Definition:
Galactose-1-phosphate uridyltransferase deficiency is also known as the first of three types of Galactosemia or otherwise called classic galactosemia. Since galactose is converted through the action of three enzymes, any deficiency in either of these enzymes would lead to galactosemia. Classic galactosemia or galactosemia type 1 is brought about by a deficiency in one of the three enzymes in the Leloir pathway known as Galactose-1-phosphate uridyltransferase or GALT. GALT is responsible for converting galactose into usable glucose in the body.
Diagnosis:
Diagnosis of classic galactosemia should be done as early as possible to prevent any fatalities. This disease can be detected through a routine newborn screening.
Treatment:
Treatment of classic galactosemia includes strictly restricting the individual's diet. Infants diagnosed with classic galactosemia can never be breast-fed due to the presence of lactose in human breast milk. Infants who have classic galactosemia can be fed with formulas that have no lactose present in them.
Symptoms and Signs:
The symptoms in classic galactosemia or Galactose-1-phosphate uridyltransferase deficiency are more severe compared to the other types of galactosemia. Classic galactosemia has been known to be fatal especially in newborns when the disease is not detected early and lactose is not removed from the newborn's diet. Serious complications of the disease include learning and speech difficulties, neurologic impairment and even ovarian failure in girls.
Causes:
Galactose-1-phosphate uridyltransferase deficiency is caused by a deficiency of the enzyme GALT responsible for the conversion of galactose to glucose in the body.
:
galactose1phosphateuridyltransferasedeficiency
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