An autosomal recessive inherited metabolic disorder caused by mutations in the GALE, GALK1, and GALT genes. It is characterized by deficiency of the enzymes responsible for the metabolism of galactose. Signs and symptoms include intellectual disability, hepatomegaly, hepatic failure, and renal failure.

Symptoms of Galactosemia

The following features are indicative of Galactosemia:
  • convulsions
  • irritability
  • lethargy
  • poor feeding
  • baby refuses to eat formula containing milk
  • poor weight gain
  • yellow skin and whites of the eyes
  • vomiting
  • diarrhea
  • nausea
  • abdominal cramps
  • bloating
  • gas
It is possible that Galactosemia shows no physical symptoms and still is present in a patient.

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Common Causes of Galactosemia

The following are the most common causes of Galactosemia:
  • deficiency of the enzyme galactose-1- phosphate uridyl transferase
  • deficiency of galactose kinase
  • deficiency of galactose-6-phosphate epimerase
  • bacterial infection

Risk Factors for Galactosemia

The following factors may increase the likelihood of Galactosemia:
  • mutations in the GALT gene
  • family history

Prevention of Galactosemia

Yes, it may be possible to prevent Galactosemia. Prevention may be possible by doing the following:
  • genetic counselling will help in make decisions about pregnancy and prenatal testing

Occurrence of Galactosemia

Number of Cases

The following are the number of Galactosemia cases seen each year worldwide:
  • Very rare between 1K - 10K cases

Common Age Group

Galactosemia most commonly occurs in the following age group:
  • At birth

Common Gender

Galactosemia can occur in any gender.

Lab Tests and Procedures for Diagnosis of Galactosemia

The following lab tests and procedures are used to detect Galactosemia:
  • Genetic testing: To see whether the individual carries the disease-causing gene
  • Blood tests: To check bacterial infection and galactose-1-phosphate uridyl transferase enzyme activity
  • Stool acidity test: To check certain acids in the stool
  • Urine test: To measure ketone level in the urine

Doctor for Diagnosis of Galactosemia

Patients should visit the following specialists if they have symptoms of Galactosemia:
  • Endocrinologist
  • Gastroenterologist

Complications of Galactosemia if untreated

Yes, Galactosemia causes complications if it is not treated. Below is the list of complications and problems that may arise if Galactosemia is left untreated:
  • cataracts
  • cirrhosis of the liver
  • delayed speech development
  • irregular menstrual periods
  • reduced function of ovaries leading to ovarian failure
  • mental disability
  • tremors (shaking)
  • uncontrollable motor functions
  • can be fatal

Self-care for Galactosemia

The following self-care actions or lifestyle changes may help in the treatment or management of Galactosemia:
  • Limit milk products: Helps in preventing this disease

Alternative Medicine for Treatment of Galactosemia

The following alternate medicine and therapies are known to help in the treatment or management of Galactosemia:
  • Calcium supplements: Helpful in treating the disease

Patient Support for Treatment of Galactosemia

The following actions may help Galactosemia patients:
  • Join support groups: Helps in coping with the disease
  • Genetic counselling: Genetic counselling is recommended for families with children who have galactosemia

Last updated date

This page was last updated on 2/04/2019.
This page provides information for Galactosemia.

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