GALT DEFICIENCY

Galt deficiency is a condition which affects how the body works with galactose or simple sugar. Many foods contain trace amounts of galactose. It is mainly a component of lactose, a bigger sugar present in many dairy products and many infant formulae. However, this condition causes a lack of ability to use galactose in generating energy.

TYPES

Classic galactosemia Type l. This is the most frequent and serious type of disease.  If babies with classic galactosemia are not immediately cured with a low-galactose diet, life-threatening problems develop within a few days after birth. 

Galactosemia type II (galactokinase deficiency). This type creates fewer medical issues than the traditional kind. Infected babies acquire cataracts but have minimal long-term problems.

Galactosemia type III (galactose epimerase deficiency). This type may cause intellectual disability, problems in the liver and kidney, and delayed growth and development.

SYMPTOMS

If your baby has typical galactosemia, he or she will look normal at birth. Nevertheless, symptoms may appear within a few days after starting to consume lactose-containing mother’s milk.

Your baby may get these symptoms:

  • breastfeeding problems
  • lack of energy 
  • growth problems
  • liver damage
  • yellowing of the skin
  • abnormal bleeding

DIAGNOSIS

To diagnose GALT deficiency, a detailed study of family and medical history, physical examination, and specific biochemical testing are used.  The following tests are also available:

Genetic testing. This test can be done on an amniotic fluid sample or CVS. It helps determine if the condition is likely to be present in a fetus. In a newborn with a verified GALT enzyme deficit, genetic testing is used after delivery to ascertain the particular type of gene mutation.

Newborn screening. This test is used to ensure the growth of the baby. A blood sample will be obtained from a tiny cut in the baby’s foot for some tests.

TREATMENT

One of the most common treatments for GALT deficiency is avoiding galactose. Your doctor will develop and implement a diet for your kid if he or she has galactosemia. Lactose and galactose are removed from their diet. Instead, infants are fed soy-based formula and are not permitted to consume milk or milk derivatives.

In addition to avoiding dairy, your doctor may advise you to avoid certain fruits, vegetables, and sweets that contain galactose. Your baby may also need vitamin and mineral supplements, such as vitamin D, calcium, vitamin C, and vitamin K.

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