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