Galactose-1-phosphate Uridylyltransferase Deficiency

Galactose-1-phosphate Uridylyltransferase Deficiency (GALT Deficiency) is a genetic metabolic disorder that affects the body's ability to process the simple sugar galactose. This condition is part of a group of disorders known as galactosemia, which leads to elevated levels of galactose in the blood. GALT Deficiency is the most common and severe form of galactosemia. It is caused by mutations in the GALT gene, which provides instructions for making an enzyme necessary for the normal processing of galactose.

Symptoms

The symptoms of GALT Deficiency typically begin in the neonatal period, shortly after the introduction of milk (which contains lactose, a disaccharide made of glucose and galactose) to the diet. Symptoms may include:

• Jaundice
• Vomiting
• Diarrhea
• Failure to thrive
• Liver enlargement (hepatomegaly)
• Cataracts
• Intellectual disability
• Sepsis due to Escherichia coli infections

If left untreated, GALT Deficiency can lead to severe complications, including liver failure, septicemia, and death.

Diagnosis

Diagnosis of GALT Deficiency is typically made through newborn screening tests, which are mandatory in many countries. These tests measure the activity of the GALT enzyme in red blood cells. Confirmatory tests include:

• Measurement of galactose-1-phosphate levels in red blood cells
• Genetic testing for mutations in the GALT gene

Treatment

The primary treatment for GALT Deficiency is the immediate and lifelong elimination of galactose from the diet. This involves:

• Exclusion of all milk and milk products
• Avoidance of other foods containing galactose
• Use of a soy-based or other non-milk-based infant formula

Some patients may also require calcium and Vitamin D supplements to support bone health. Regular monitoring of growth, development, and nutritional status is essential for managing this condition.

Prognosis

With early diagnosis and strict adherence to a galactose-free diet, individuals with GALT Deficiency can live healthy lives. However, some long-term complications may still occur, including speech problems, learning difficulties, and ovarian failure in females.

Epidemiology

GALT Deficiency affects approximately 1 in 30,000 to 60,000 newborns worldwide. The prevalence may vary significantly among different populations and ethnic groups.

Genetics

The GALT gene is located on chromosome 9p13. It is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene (one from each parent) to develop the disorder. Carriers, who have only one copy of the mutation, typically do not show symptoms of the disease.

See Also

• Lactose intolerance
• Newborn screening
• Inborn errors of metabolism

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