Ultimate NEET-PG Exam Study Material

Proven Effective Content with 96% Strike Rate

Galactosemia: Causes, Symptoms, Types, Diagnosis and Treatment

Aug 04, 2023


Breast milk contains all of the vital nutrients, hormones, and antibodies that newborns need to stay healthy and resist disease.

However, some babies can develop galactosemia. Galactose, a sugar found in breast milk and newborn formula, cannot be converted into energy by them due to a rare metabolic condition. If left untreated, the illness can have devastating effects on babies, including potentially fatal complications.

It's easy to test for galactosemia. Once it is recognized, treatment is also simple. Children that are afflicted can also live normal lives.

ENT Residency

Causes Of Galactosemia

Galactosemia runs in families. For it to be passed down to their child, both parents must have this condition.

If your kid has this issue, it implies that some pieces of the genes that make the enzymes that convert galactose into glucose (a sugar) are defective. The genes cannot direct the enzymes to carry out their tasks without these components. Galactose builds up in the blood as a result, which is problematic, especially for babies.

Galactosemia comes in three primary forms:

  • Standard (type I)
  • Type II galactokinase deficiency
  • Galactose epimerase III deficiency

About 1 in 30,000 to 60,000 people have type I. Types II and III are less typical.

You and your spouse can undergo genetic testing for galactosemia if you are a parent or prospective parent. Galactose is not something you have to avoid if you are a carrier. However, it implies that you can pass on galactosemia to your offspring.

Symptoms Of Glacatosemia

After a few days of feeding, the characteristic galactosemia symptoms start to show in neonates. Mild or severe symptoms could include:

  • Decrease in appetite
  • Lethargy
  • Vomiting
  • Diarrhea
  • Severe loss of weight
  • Weakness
  • Lack of success
  • Jaundice
  • The liver is larger
  • Fluid-filled abdominal swelling (ascites)
  • Edoema, or swelling surrounding the brain

These signs call for urgent medical intervention. These symptoms ought to get better when a doctor diagnoses galactosemia and you stop feeding your infant galactose.

Types Of Galactosemia

Type I (Traditional)

The most prevalent and severe form of galactosemia is type I, commonly known as the classic kind. A GALT gene mutation results in type I. This gene is in charge of producing the enzymes that convert galactose into glucose and other fuel-producing molecules. This enzyme activity is essentially eliminated by the type I gene mutation, rendering galactose digestion impossible. Galactose builds up quickly in your body as a result of this.

Type II (deficiency in galactokinase)

The GALK1 gene mutation results in the type II variation. This gene produces enzymes that aid in the metabolism of galactose. Compared to the traditional type, type II has fewer health issues. The main concern associated with type II is the potential for cataract development.

Galactose epimerase deficiency, type III

Type III galactosemia is brought on by the GALE gene, which creates enzymes that support galactose metabolism. Any lack of these crucial enzymes will eventually cause galactose to build up in your body. The symptoms of Type III can be moderate or severe. The more severe form can result in many of the more severe complications of classic galactosemia, such as cataracts, delays in development, intellectual difficulties, liver illness, and kidney issues.

Duarte galactosemia

Mutations in the GALT gene, which also causes classic galactosemia, result in Duarte galactosemia. Just a milder mutation, that's all. The vital enzyme activity that is responsible for metabolizing galactose is diminished but not completely stopped. Despite not having the same medical consequences, people with Duarte galactosemia may experience some digestive issues from eating foods that contain galactose. They don't have to strictly limit their intake of galactose.

Diagnosis Of Galactosemia

The typical method for diagnosing galactosemia is to conduct tests as part of newborn screening programs. High quantities of galactose and low levels of enzyme activity can be found using a blood test. Typically, a baby's heel is pricked to obtain the blood.

Galactosemia can also be identified by genetic testing and also with the help of urine test.

Also Read :

Proctitis: Causes, Symptoms, Risk Factors, Diagnosis, Treatment, Prevention and ComplicationsXerostomia (Dry Mouth): Causes, Symptoms, Diagnosis, Treatment and Complications
Ramsay Hunt Syndrome: Causes, Symptoms, Risk Factors, Diagnosis, Treatment, Prevention and ComplicationsThe Wolff-Parkinson-White (WPW) Syndrome

Treatment Of Galactosemia

Milk and other foods containing lactose or galactose cannot be taken as a result. Galactosemia has no known causes or approved treatments to replace the missing enzymes.

A low-galactose diet may not halt all issues, but it can prevent or lower the risk of some of them.

In some instances, children continue to experience concerns like delayed speech, learning difficulties, and reproductive disorders.

Some children may benefit from speech therapy as part of the treatment approach because speech issues and delays are frequent consequences.

Individual education plans and interventions may also be beneficial for kids with learning difficulties and other delays.

Controlling infections once they arise is essential because galactosemia can increase the risk of infections. It could be required to take antibiotics or other drugs.

Additionally suggested treatments include hormone replacement therapy and genetic counseling. Hormone replacement therapy might be helpful because galactosemia can affect puberty.

It's crucial to discuss any concerns with your doctor as soon as possible.


Avoid foods that contain lactose if you're on a low-galactose diet, such as:

  • Milk
  • Butter
  • Cheese
  • Other dairy items
  • Ice cream

Many of these dishes can be swapped out for dairy-free substitutes like sorbet, coconut oil, almond or soy milk. Find out more about almond milk for young children.

Lactose is also present in human breast milk, which is not advised for infants with this condition. However, some infants with Duarte variant galactosemia might still be able to consume breast milk. If you are worried that you won't be able to breastfeed your child, talk to your doctor.

While breastfeeding a newborn with galactosemia is not advised by the Centres for Disease Control and Prevention (CDC), it is the best way for babies to get the nutrients they need. You must substitute a lactose-free formula instead. Consult your doctor about available formulas.

If you wish to use formula, look for a lactose-free type. Vitamin D is added to many dairy products. Ask your doctor if your child should take vitamin D pills.

Complications Of Galactosemia

Galactosemia can develop a number of consequences if it is not identified and treated as soon as possible. Galactose accumulation in the blood can be harmful. Galactosemia in infants can be lethal without identification and treatment.

Typical side effects of galactosemia include:

  • Injury to or failure of the liver
  • Significant bacterial infections
  • Sepsis is a potentially fatal condition brought on by illnesses
  • Shock issues with delayed development and behavior
  • Cataracts tremors
  • Issues and delays with speaking
  • Having trouble learning
  • Fine motor challenges
  • Bone mineral density is low
  • Reproduction issues
  • Early ovarian failure
  • Specifically in women, premature ovarian insufficiency is found. Early ovarian function loss has an impact on fertility. Menopause and early ovarian insufficiency share certain symptoms.

Download the PrepLadder App and get the best neet pg online coaching with world-class video lectures, QBank, Mock Tests and more!

Download PrepLadder's best app for neet pg preparation for Android 

Download PrepLadder's best app for neet pg preparation for ios

Rapid Revision 5.0
Auther Details

PrepLadder Medical

Get access to all the essential resources required to ace your medical exam Preparation. Stay updated with the latest news and developments in the medical exam, improve your Medical Exam preparation, and turn your dreams into a reality!


Top searching words

The most popular search terms used by aspirants

  • NEET PG Medicine
  • NEET PG Medicine Preparation