what is Galactosemia [2021] – Symptoms, Causes

what is Galactosemia [2021] – Symptoms, Causes

Galactosemia is a condition where the body cannot process a sugar called galactose. It is an inherited disorder and it affects the body’s ability to process simple sugar. You might find galactose in foods like dairy and related products. Galactose is also present in lactose as a part. This condition needs attention immediately as the human body usually breaks down the lactose as galactose and glucose. When your body cannot process the galactose, it causes galactosemia. It leads to too much galactose build-up in the blood.

Infants will have too much build-up in their system if breastfed. So infants with this condition need extra care. Galactosemia causes severe complications in infants if not treated as soon as possible. Galactosemia has various forms based on the severity of the condition and it is essential to know the types before looking at the symptoms of galactosemia. The types of galactosemia:

  • Type 1- Classic galactosemia: This type is common and rigorous. It is because of the complete absence of a particular enzyme called the galactose-1 uridyl transferase and mutations of the GALT enzyme. This type also has a variant called the Duarte, where the affected people have mutations of the GALT gene and only partial deficiency of the mentioned enzyme.
  • Type 2- Galactokinase deficiency: This type of galactosemia forms because of the mutation of the GALK 1 gene. The effect it has on the affected persons is minimum compared to type 1 galactosemia. It causes cataracts and rarely causes a condition that resembles a brain tumour.
  • Type 3- Galactose epimerase deficiency: This is the deficiency of galactose-6-phospate epimerase (GALE). Type 3 signs and symptoms of galactosemia are curable with treatment. The symptoms of this type closely resemble the classic galactosemia. But people with this type rarely show any symptoms. Even if it did, get it tested and consult your doctor.

what is galactosemia

Symptoms Of Galactosemia:

Galactosemia shows some symptoms in infants and some when they grow up. With infants, we can see the symptoms within a few days after their birth. If left untreated, it can lead to issues like kidney damage, enlarged liver, and even brain tumours.

The most common symptoms of galactosemia are:

  • Irritability
  • Jaundice (discoloration of skin and eyes)
  • Convulsions
  • Lethargy
  • Refusing or spitting food
  • Vomiting
  • Poor weight gain
  • Low blood sugar

These are the initial symptoms of galactosemia. So, when the doctor diagnoses this condition in the early phase, the child might get proper treatment. There are chances of other symptoms showing up, and that includes:

  • Speech disorders
  • Delayed motor and reasoning skills
  • Tremors
  • Dysmetria

Most females with galactosemia suffer from premature ovarian insufficiency. It is a condition wherein the ovaries lose the ability to produce eggs. If you spot any of these symptoms in your child, then get immediate medical help.

Note:- This disease is commonly found in Infant babies and Adults Also.

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Galactosemia diet :

Definitely, you need to exclude your lactose food from your diet.

Such As:

a) Dairy Products

b) Butter, Cheese,

c) Mothers Breats Milk is Also having lactose. So, If any baby is suffering from this disease it’s better to avoid it.

What is Duarte Galactosemia?

If you do not metabolize your galactose due to lack of your body enzyme i.e. Galactose – it is called Duarte Galactosemia. It may Show on Classic -I Galactosemia.


Galactosemia is a rare autosomal recessive disorder inherited from parents. The unfamiliarity about this rare disease might confuse the people who got affected. So, discuss with your dietician about the food controls. Proper diagnosis and treatment of galactosemia might be helpful for the child while growing up. However, people say that even with galactose restriction, some might face difficulty in regular development. But you can manage with consistent care and treatment.


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