To test for galactosemia a newborn screening test is done when a baby is born to detect galactosemia which is a metabolic disorder that prevents the body from processing galactose, which is a sugar found in milk.
The screening test for newborns involves a blood test using a heel prick test, to measure GALT enzyme activity and/or a total galactose level test.
The blood same is collected from the newborn through a heel prick test within the first couple of days of life and the blood sample is tested for the activity of the GALT enzyme galactose 1 phosphate uridyltransferase and a low or absent GALT level indicates galactosemia..
Some screening tests for galactosemia may also measure the total amount of galactose in the blood and elevated galactose levels can also be another indicator of galactosemia.
Further follow up tests including blood tests and urine tests are also often done as well as a DNA analysis to confirm the diagnosis and determine the type of galactosemia, which can be classic galactosemia or Duarte galactosemia.
For adults blood tests and even urine tests are often done to screen for galactosemia although it's most often diagnosed by birth.
Galactosemia is considered to be very serious because if left untreated and not diagnosed and not treated soon enough it can become life threatening.
Left untreated the galactosemia can result in severe complications such as brain damage, liver damage, cataracts and in some cases even death.
If the galactosemia is diagnosed and treated early enough, people with galactosemia can live pretty normal lives.
Untreated galactosemia can cause scarring of the liver which is also known as cirrhosis.
Galactose as well as the byproducts of galactose can also accumulate in your brain and result in developmental delays, intellectual disabilities as a result of brain damage.
Cataracts can also develop in your eyes as a result of the galactose buildup and you're also at an increased risk of serious bacterial infections including sepsis and E. coli if galactosemia is left untreated.
Females that have galactosemia can also experience premature ovarian insufficiency or early menopause and even with treatment people with galactosemia may experience speech delays and learning disability.
Galactosemia can sometimes affect a persons mental growth and can lead to long term complications including cognitive impairments.
Along with speech and language disorders, people with galactosemia may also have neurodevelopmental delays and some people with galactosemia also experience trouble with balance, gait and experience fine motor tremors.
The reason why galactosemia can cause brain damage is because the body can't properly process the galactose which is a sugar that is found in milk.
When the body cannot process the galactose sugar, it results in the galactose building up in the blood and the tissues.
The accumulation of the galactose in the blood and tissues building up disrupts your normal brain development and function and causes a range of neurological issues.
And the excess galactose is also converted into galactitol, which also increases osmotic pressure in your brain, which also leads to swelling also called edema, and can potentially damage brain cells.
Mental retardation is sometimes a complication in people with galactosemia, especially in people that have classical galactosemia, especially when they are not diagnosed and treated early enough.
Early diagnosis and strict dietary management such as by avoiding galactose and lactose can prevent severe complications of galactosemia such as cataracts and liver failure, but some people may still experience mild mental retardation and other possible cognitive impairment.
Galactosemia affects adults by causing various health issues and challenges in the adults daily life.
Common issues that galactosemia can cause in adults are depression, anxiety, low bone density, tremors, cognitive challenges and speech difficulties.
Also 1 in 5 adults with galactosemia also develop galactosemia related cataracts, which is caused by the build up of toxic galactitol in the lens of the eye.
The symptoms of galactosemia in adults are ovarian failure in women, cognitive issues such as memory problems, difficulties with language and speech and tremors.
And even when early treatment for galactosemia, some adults may even experience ongoing challenges with their daily activities like motor skills and memory.
And although less common, seizures can also occur as a result of galactosemia.
Some people with galactosemia may also experience cataracts which is clouding of the lens of the eyes, low bone density, anxiety, depression, social isolation, difficulty with precise hand movements and coordination and even learning difficulties.
The way someone gets galactosemia is through a gene mutation.
Inheriting galactosemia from both parents is how you get galactosemia.
Galactosemia is an inherited metabolic disorder that is caused by mutations in the genes which encode enzymes that are involved in the breakdown of galactose, which is a sugar that is found in dairy products and milk.
Classic galactosemia type I is caused by mutations in the GALT gene, that codes for the enzyme galactose-1-phosphate uridyl transferase (GALT).
Galactokinase deficiency type II is caused by mutations in the GALK1 gene, that codes for the enzyme galactokinase.
And Galactose epimerase deficiency type III is caused by mutations in the GALE gene, that codes for the enzyme galactose epimerase.
And when these enzymes are deficient, galactose accumulates in your body and results in various different health issues such as intellectual disability, growth failure, cataracts, kidney failure and even liver damage.
Galactosemia is inherited in an autosomal recessive pattern, which means that the child has to inherit a mutated gene from both parents to develop the galactosemia condition.