Galactosemia Symptoms and Treatment

 

What is galactosemia

 Galactosemia is a

rare genetic metabolic disorder

affecting the ability to metabolize the

galactose properly it follows the more

of an auto mosul recessive inheritance

and there is a deficiency of the enzyme

galactose 1p ural transferase which does

lead to toxic levels of galactose

1-phosphate so that is important to keep

in mind

generally other diseases first diagnosed

through NBS which is newborn screening

so you will be able to detect it at an

early age and from a genetic from a

statistical standpoint if both parents

are carriers then the child has a 25%

chance of being affected with the gene

50% transit be in a partial carrier and

a 25% chance of having normal genetics

now moving on to the physio pathology so

a patient is deficient and g1 period all

transferase which does lead to the

accumulation of GE 1p which damages both

the liver and the kidney and the

symptoms are mental read are mental

retardation by accumulation of direct

variable bilirubin you can also have

cataracts seizures even brain damage and

hypoglycemia

Symptoms

If given milk or milk products, a newborn or infant with galactosemia can develop signs and symptoms that include:

1. Poor feeding
2. Vomiting
3. Jaundice
4. Poor weight gain
5. Failure to regain birth weight, which usually happens by the time a newborn is two weeks old
6. Lethargy
7. Irritability
8. Seizures
9. Cataracts
10. An enlarged liver 
11. Low blood sugar

E.t.c

Treatment

As there is no cure for classic galactosemia; instead, children are treated with a special galactose-free diet in which they avoid all milk and milk-containing products as much as possible for the rest of their lives. This includes:

1. Breastmilk
2. Cow's milk-based baby formula
3. Cow's milk, goat's milk or dry milk
4. Margarine, butter, cheese, ice cream, milk chocolate or yogurt
5. Foods that list nonfat dry milk solids, casein, sodium caseinate, whey, whey solids, curds, lactose or galactose on the list of ingredients
6. Instead, newborns and infants should drink a soy-based baby formula, such as Enfamil Prosobee Lipil, Similac Isomil Advance or Nestle Good Start Soy Plus. If your baby doesn't tolerate a soy formula, an elemental formula, such as Nutramigen or Alimentum may be used instead. These formulas, however, do have small amounts of galactose.