Galactosemia: Causes, Symptoms, and Management of This Rare Genetic Disorder

 

Dairy products like milk, cheese, baby formula and yoghurt contain a sugar called galactose. Galactosemia is the body’s inability to process or break down galactose.

 

Galactose combines with sugar to form lactose. While an inability to process lactose (lactose intolerance) is quite common in adults worldwide, galactosemia is a rare genetic disorder. It leads to a buildup of dangerous galactose levels in the body, causing various complications such as cataract and liver failure.

 

This article discusses galactosemia, its causes, symptoms, management, and more.

What is Galactosemia?

Galactosemia is a genetic metabolic disorder in which the body cannot process galactose, a sugar found in dairy products.

Galactosemia is particularly dangerous for newborn babies, who rely on breast milk and baby formula for essential nourishment, which contain galactose. If not diagnosed early, galactose levels can build up in the babies, causing severe complications such as permanent organ damage.

 

There are three main types of galactosemia disease:

 

1. Classic galactosemia (Type 1)

2. Galactokinase deficiency (Type 2)

3. Galactose epimerase deficiency (Type 3)

 

Out of these, classic galactosemia is more common than the other two types.

What Causes Galactosemia

Galactosemia’s cause is a genetic mutation. Parents can pass this condition on to their children. For the child to have galactosemia, both parents must have the particular gene mutation and pass it to the child. However, one or both parents need not display the symptoms of galactosemia.

What are the Symptoms of Galactosemia?

With classic galactosemia, the newborn baby appears normal at birth. Galactosemia symptoms in the child can occur days or weeks after birth. These include:

1. Loss of appetite
2. Vomiting
3. Yellowing of the skin (jaundice)
4. Liver enlargement and damage
5. Fluid buildup in the abdomen and abdominal swelling
6. Abnormal bleeding
7. Diarrhoea
8. Fatigue and lethargy
9. Weight loss
10 Increased risk of infection

 

What are the Complications of Galactosemia?

 

Galactosemia in newborns is particularly dangerous if not diagnosed early. The body of a newborn child with galactosemia cannot break down galactose. This leads to a buildup of galactose in the body.

Due to this buildup, galactose overflows and interacts with the regions of the body it is not supposed to and gets converted to galactitol. Galactitol is an alcohol toxic to the body. The accumulation of this toxic chemical in tissues and organs can cause the following complications in the child:

 

1. Cataract
2. Developmental delays
3. Intellectual disabilities
4. Speech difficulties
5. Gross and fine motor difficulties
6. Neurological impairment
7. Kidney disease
8. Liver failure

 

With early detection and galactosemia treatment, the child can grow normally. However, some problems persist as it becomes difficult to eliminate galactose from the body completely. These problems include:

 

1. Learning difficulty
2. Behavioral problems
3. Balance and coordination problems
4. Hormone deficiencies

 

In adults, the symptoms of galactosemia come and go intermittently depending on how well their diet is managed. Some complications faced by women with galactosemia include difficulty in getting pregnant and carrying the baby to term.

How is Galactosemia Diagnosed?

Galactosemia diagnosis through a blood test is a standard procedure for newborn babies. The blood for testing is usually taken by pricking the baby’s heel 24 hours after birth.

The blood test looks for specific enzyme activity in the blood. If positive, further genetic testing can be carried out to confirm galactosemia.

How to Manage Galactosemia?

Diet is a major component for managing galactosemia successfully. A low-galactose diet involves avoiding the following food items permanently:

 

1. Milk
2. Butter
3. Cheese
4. Ice cream
5. Other dairy products

 

Following diet changes can help manage galactosemia:

 

1. Replace dairy products with soy, almond, sorbet, and coconut oil alternatives.
2. Replace breastfeeding with lactose-free formula for babies.
3. Eliminate fruits, vegetables and candies that contain galactose, such as cherries, kiwifruit, plums, celery, avocado, etc.
4. Regularly take vitamin and mineral supplements the doctor recommends, such as vitamin K, calcium, vitamin C, and D.

 

Apart from these diet changes, the following tests are also recommended by doctors for those suffering from galactosemia to identify any health problems early:

 

1. Eye testing for cataracts
2. Neurological assessment
3. Bone density screening
4. Hormonal screening

 

Galactosemia is a genetic condition in which the body cannot process galactose sugar, causing several complications, especially in babies. It is critical to detect galactosemia early at birth and begin treatment for a favourable prognosis. Galactosemia is inherited by the child through both parents. When planning to have a baby, consider consulting a doctor and book a galactosemia gene mutation detection test at Dr Lal PathLabs.

FAQs

1. What is the life expectancy with galactosemia?

With early diagnosis, treatment and a galactose-free diet, the life expectancy of someone with galactosemia is normal.

2. Which type of galactosemia is more common?

Type 1 or classic galactosemia is more common and severe than type 2 and type 3.