Symptoms of Galactosemia in Children & its Treatment

In this article, we will try to understand what galactosemia is, the symptoms and treatment of galactosemia in children. Galactosemia is a condition in which, the metabolism is affected and digestion of galactose, a form of sugar becomes difficult.

What is Galactosemia?

Ideally galactose, found in milk and milk products is converted into glucose for energy. Galactosemia is an inherited condition, in which the enzymes, which enable digestion of galactose into glucose are lacking. If the condition is left untreated it can affect health as galactose is known to increase the toxicity in the body. Nervous system, liver and other organs in the body, can be affected in galactosemia, which can affect a child’s health in many ways. There are various symptoms of galactosemia in children, which need to be understood to be able to seek treatment at the earliest.

What are Symptoms of Galactosemia in Children?

What are Symptoms of Galactosemia in Children?

Due to deficiency of the required enzyme, in galactosemia, the body is unable to break down galactose into glucose. This results in various symptoms of galactosemia in children, due to accumulation of galactose which can affect their health. As the baby is unable to digest galactose in milk, when the baby is given milk, the sub-products of galactose get deposited in their body. This can be really harmful for various body organs, including, eyes, liver, brain, kidney and more.

Here are Some of the Symptoms of Galactosemia in Children:

The commonest symptom of galactosemia in children is jaundice, particularly in new born infants. This mainly occurs as their body cannot digest the galactose present in breast milk. Another commonest symptom of galactosemia is vomiting and lethargy. The baby may refuse feeds and feel fatigued most of the time. The baby often feels irritated, and can also experience convulsions, which is a serious symptom of galactosemia in children.

Other signs and symptoms of galactosemia in children may also be noted in some cases, as children grow up. Some may experience late symptoms of galactosemia like learning disabilities, which include problems in learning language, speech problems, reading or writing difficulty, difficulty in learning math, problems with fine and gross motor skills, etc. Other symptoms of galactosemia in children include coordination problems, difficulty in movement and spatial understanding or involuntary muscle contractions. Some female children may even experience premature ovarian insufficiency, in which the ovaries stop producing eggs prematurely.

If not treated properly, galactosemia can become very severe and cause further, dangerous problems like cataracts, kidney failure, cirrhosis, and mental retardation.

Treatment for Galactosemia in Children

Treatment for galactosemia in children includes a combination of diet restrictions, substitutes, education and medications, if appropriate. Screening helps to prevent certain cases or allows parents and doctors to be prepared for early treatment.


Galactosemia is a genetic disorder, which can be easily detected in the screening test of a new born. Majority of people are unaware about galactosemia in children and do not know that they carry the genes, which can be passed on to their children. Hence, screening of the newborn is important, so that appropriate treatment for galactosemia in children can be initiated at the right time.

Families, who have the genetic problem of galactosemia, should always go for genetic counseling before planning a child. If the child is diagnosed with galactosemia, the other family members should also get genetic counseling done, to find out ways to prevent it.


Parents and teachers should be informed about the condition of the child and about the symptoms of galactosemia. If any symptoms appear or if there are any changes in the behavior of the child, immediate medical help should be sought.

A healthy diet is very important, to maintain proper functioning of the body. Along with the children, their friends and teachers should also be guided with important points, any ongoing treatment for galactosemia and diet restrictions, so that their support can be obtained. If proper diet restrictions are followed, undesirable consequences can be avoided.

Diet Restrictions

The best treatment for galactosemia in children is to avoid the food items which contain galactose in it.

  • Milk products, are known to be the most common ingredients, which contain galactose and lactose, hence children should avoid the consumption of food ingredients or dairy products that contain galactose in it.
  • It is necessary to completely avoid food items which contain galactose in it, as it can become really toxic or dangerous for the human body, at times.
  • Different medicines, baby food and other foods available in the market may also contain galactose. It is necessary for parents to check if a drug or product contains lactose or galactose and avoid using such products.
  • Replacement. As a part of treatment for galactosemia, following a lactose or galactose free diet is important. One of the most convenient and easiest way of avoiding galactose food items, is by using soya based, or meat originated ingredients, which can help to stay lactose or galactose free.
  • Supplementation. Milk products are known to be an ultimate source of calcium, which means that children with galactosemia may require calcium supplements to avoid calcium deficiency. Treatment for galactosemia may also include the use of such supplements, with appropriate medical advice.
Pramod Kerkar, M.D., FFARCSI, DA
Pramod Kerkar, M.D., FFARCSI, DA
Written, Edited or Reviewed By: Pramod Kerkar, M.D., FFARCSI, DA Pain Assist Inc. This article does not provide medical advice. See disclaimer
Last Modified On:November 10, 2021

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