OVERVIEW OF WHAT GALACTOSEMIA IS
Galactosemia is a rare inherited disorder resulting from genetic mutation that prevents the body from properly breaking down galactose. Galactose is a sugar found in milk and other dairy products.
There’s is no way of preventing Galactosemia from developing but genetic testing can help identify carriers of the gene mutation so that treatment may be commenced.
There are three different types each with its own unique symptoms and treatment options.
1️⃣ Classic Galactosemia
It is the most common type. It is caused by a deficiency of the enzyme, galactose-1-phosphate uridyltransferase (GALT). People with classic Galactosemia cannot break down galactose properly and the galactose builds up in their blood and tissues. Without treatment, liver disease, kidney failure and brain damage may result.
2️⃣ Galactokinase deficiency
It is caused by a deficiency of the enzyme, galactokinase. People with galactokinase cannot break down galactose and the galactose builds up in their body.
3️⃣ Galactose-1-phosphate uridyltransferase deficiency
It is the rarest type of Galactosemia resulting in high levels of galactose in the body.
SYMPTOMS
1️⃣ Classic Galactosemia
- Vomiting
*Diarrhea
*Jaundice
2️⃣ Galactokinase deficiency
- Similar to those of classic Galactosemia but the risk of long-term complications is lower.
3️⃣ Galactose-1-phosphate uridyltransferase deficiency
- Similar to those of classic Galactosemia but there’s a risk of developing anemia and low blood sugar.
DIAGNOSTIC PROCESS
Most of the cases of Galactosemia are diagnosed through newborn screening. Babies who are born with Galactosemia typically show symptoms within a few days of birth. A diagnosis can be confirmed through a blood test that measures the levels of enzymes needed to break down galactose in the blood.
TREATMENT
Treatment involves following a strict diet that excludes galactose. That means no intake of milk and dairy products. Some people with Galactosemia may also need to take vitamin supplements and medications to help manage their symptoms.
It is also important for people with Galactosemia to have regular check-ups with a doctor to monitor their health.
PROGNOSIS
It depends on how well people with Galactosemia are able to follow their treatment plan. People who follow a strict diet and take their medications as prescribed typically have a good prognosis. They often live long, healthy lives. However, people who don’t follow their treatment plan may experience serious health problems such as liver disease, kidney failure and vision loss.
CONCLUSION
Parents of children with Galactosemia often need support and guidance to help their children manage the condition. It’s also important for siblings and other family members to understand the condition so they can provide support and understanding.
Galactosemia is an ultra-rare disease affecting 1 in 200 000 people making it even more important for organisations like CYC to provide support and resources for those affected.
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