What is Galactosemia Screening ?
Galactosemia screening is a newborn screening test that checks for a rare genetic disorder called galactosemia. This disorder prevents the body from properly processing galactose, a sugar found in milk and other dairy products. If untreated, galactosemia can lead to serious health problems, including liver damage, brain damage, and even death.
Why Galactosemia Screening is required?
Galactosemia screening is essential because it allows for early diagnosis and treatment. Early intervention can prevent the severe health consequences associated with this disorder.
which are the method of Galactosemia Screening?
Galactosemia screening is typically performed as part of a newborn screening panel, which involves a blood sample taken from the baby’s heel within the first few days of life. The blood sample is then tested for the presence of certain enzymes that are necessary for processing galactose.
who should go for Galactosemia Screening?
All newborns should undergo galactosemia screening as part of routine newborn care.
What are the results of Galactosemia Screening?
A positive galactosemia screening result indicates that the baby may have the disorder. Further testing, such as a urine test or genetic testing, is needed to confirm the diagnosis.
What are the components of Galactosemia Screening?
Galactosemia screening typically involves testing for the presence of the enzyme galactose-1-phosphate uridyltransferase (GALT). This enzyme is essential for breaking down galactose.
