Galactosemia: Symptoms, Causes, Treatment

What are the symptoms of galactosemia?

Galactosemia is a rare genetic disorder that affects how the body processes galactose, a sugar found in milk and dairy products. Symptoms of galactosemia typically appear in infancy and can vary in severity. Common symptoms include:

1. Jaundice: Yellowing of the skin and whites of the eyes.
2. Poor feeding: Difficulty feeding, feeding intolerance, or refusal to feed.
3. Vomiting: Frequent vomiting after feeding.
4. Lethargy: Excessive tiredness or lack of energy.
5. Failure to thrive: Poor weight gain and growth.
6. Irritability: Unexplained fussiness or irritability.
7. Convulsions: Seizures may occur in severe cases.
8. Liver enlargement: The liver may become enlarged.
9. Kidney problems: Such as kidney failure or kidney stones.
10. Developmental delays: Including delays in speech and motor skills.

If left untreated, galactosemia can lead to serious complications, including liver damage, intellectual disability, and other long-term health problems. Early diagnosis and management are key to preventing complications and ensuring the best possible outcome for individuals with galactosemia.

What are the causes of galactosemia?

Galactosemia is caused by a deficiency in one of the enzymes needed to break down galactose, a sugar found in milk and dairy products. There are three types of galactosemia, each caused by a deficiency in a different enzyme:

1. Classic galactosemia: This is the most common and severe form of the condition, caused by a deficiency in the enzyme galactose-1-phosphate uridylyltransferase (GALT).
2. Galactokinase deficiency: This form of galactosemia is caused by a deficiency in the enzyme galactokinase, which is needed to convert galactose to galactose-1-phosphate.
3. UDP-glucose 4-epimerase deficiency: This is the rarest form of galactosemia and is caused by a deficiency in the enzyme UDP-glucose 4-epimerase, which is needed to convert UDP-galactose to UDP-glucose.

In all forms of galactosemia, the deficiency in these enzymes leads to an accumulation of galactose in the body, which can be toxic and cause the symptoms associated with the condition. Galactosemia is inherited in an autosomal recessive pattern, which means that a person must inherit two copies of the defective gene (one from each parent) to develop the condition.

How is the diagnosis of galactosemia made?

The diagnosis of galactosemia is typically made through newborn screening or when symptoms suggestive of the condition are observed. Here’s how the diagnosis is typically made:

1. Newborn screening: In many countries, newborn screening programs include testing for galactosemia shortly after birth. A small blood sample is taken from the baby’s heel and tested for levels of galactose and its metabolites. Elevated levels may indicate galactosemia.
2. Symptoms: If a newborn does not undergo screening or if the screening results are inconclusive, the diagnosis may be made based on symptoms observed in the infant, such as jaundice, poor feeding, vomiting, and failure to thrive.
3. Confirmatory testing: If galactosemia is suspected based on newborn screening results or symptoms, confirmatory testing is typically performed. This may involve further blood tests to measure enzyme activity or genetic testing to identify mutations in the genes associated with galactosemia.
4. Family history: A family history of galactosemia or unexplained infant deaths may also raise suspicion for the condition and prompt further testing.

Early diagnosis is crucial for the management of galactosemia, as prompt treatment can help prevent complications and improve outcomes. If galactosemia is confirmed, treatment typically involves eliminating galactose and lactose (the sugar formed by the breakdown of lactose) from the diet, usually by avoiding milk and dairy products. A consultation with a metabolic specialist or genetic counselor is often recommended for families of infants diagnosed with galactosemia to discuss treatment options and long-term management.

What is the treatment for galactosemia?

The main treatment for galactosemia is a strict lifelong diet that avoids foods containing galactose and lactose, the sugar formed by the breakdown of lactose. This means avoiding all milk and dairy products, as well as certain other foods that contain galactose, such as some fruits and vegetables.

Infants with galactosemia are typically fed a special formula that does not contain lactose or galactose. This formula provides all the necessary nutrients for growth and development without the harmful sugars. Breastfeeding is not recommended for infants with galactosemia unless the mother is following a strict galactose-free diet.

It’s important for individuals with galactosemia to follow this diet strictly, as even small amounts of galactose can cause serious complications. Regular monitoring by a healthcare team, including a metabolic specialist or genetic counselor, is also important to ensure that the diet is being followed correctly and to monitor for any complications or long-term effects of the condition.

In addition to dietary management, some individuals with galactosemia may benefit from other treatments or therapies to manage specific symptoms or complications of the condition. These may include medications to manage liver or kidney problems, or therapies to address developmental delays or other issues. Each individual’s treatment plan will be tailored to their specific needs and may change over time based on their health and development.

What are the long term complications from galactosemia?

Galactosemia, if left untreated or not managed effectively, can lead to various long-term complications. These can vary depending on the severity of the condition and how well it is managed. Some potential long-term complications of galactosemia include:

1. Liver damage: Galactose can accumulate in the liver and cause damage over time, leading to liver problems such as cirrhosis or liver failure.
2. Kidney problems: Galactosemia can lead to the formation of kidney stones or other kidney problems.
3. Intellectual disability: In severe cases of galactosemia, the buildup of galactose in the body can cause intellectual disability or developmental delays, particularly if the condition is not diagnosed and treated early.
4. Speech and language delays: Some individuals with galactosemia may experience delays in speech and language development.
5. Ovarian failure: In females with galactosemia, the condition can lead to ovarian failure, which can affect fertility.
6. Neurological problems: Galactosemia can sometimes lead to neurological problems, including tremors, difficulty walking, and other movement disorders.
7. Cataracts: People with galactosemia are at an increased risk of developing cataracts, which can affect vision.
8. Bone health issues: Galactosemia can affect bone health, leading to an increased risk of fractures or osteoporosis.
9. Growth and development issues: Children with galactosemia may experience delays in growth and development if the condition is not managed effectively.

It’s important for individuals with galactosemia to receive regular monitoring and follow a strict galactose-free diet to prevent or minimize these long-term complications. Working closely with a healthcare team, including a metabolic specialist, can help ensure that the condition is managed effectively and that any complications are identified and addressed promptly.