Galactosemia

Galactosemia is a genetic disorder which causes the enzyme galactose-1-phosphate uridylyltransferase (Abbreviated as GALT) to not function properly or disappear. GALT helps your body digest galactose, a sugar commonly found in dairy products and some other foods such as avocados. Galactosemiaprevents you from properly digesting galactose, which can heavily impact your diet. one in thirty-thousand infants has galactosemia.

Galactosemia was discovered in 1908 by Von Reuss. Von Reuss noted that the infant suffering from galactosemia had an enlarged liver & spleen, and was having trouble being healthy while breastfeeding. The enlargement of the liver and spleen was caused by the organs not being able to break down the galactose. Symptoms are caused by the lack of galactose in the diet or when or when you eat galactose and your body can't properly digest it. Galactosemia doesn't show many physical symptoms. Symptoms include a lack of weight gain, Lethargy, & Convulsions. Galactosemia doesn't have environmental factors. Galactosemia can be easily diagnosed with a blood test during regular screenings for newborns. as shown by the picture in the bottom right, galactosemia doesn't have physical symptoms.

Galactosemia is recessive and autosomal. The gene responsible for galactosemia is located on chromosome 9. the mutation occurs in the GALT gene. around ~6% of the population carries the allele for galactosemia, and since it's recessive, galactosemia doesn't occur very often.

Galactosemia can be treated with an adjusted diet and awareness of how much galactose is in your blood. If you keep away from foods containing galactose, the symptoms won't be noticeable. It impacts children the most, as they require milk in their diet, which contains galactose. If an infant ate too much galactose, it can be lethal.