Galactosemia
What is it?
Galactosemia is a rare congenital metabolic condition which is characterized by galactose intolerance. The disorder may cause problems for newborns that cannot process breast milk or formula, which can be life threatening. Galactosemia is a genetic disorder, in which the enzyme that breaks up galactose is not produced. There are three types of galactosemia.
Signs & symptoms
In classic galactosemia, symptoms first appear within the first days of life and may include weight loss, vomiting, diarrhea, and jaundice. If not treated, complications may include liver and kidney damage, developmental disabilities and problems with motor skills.
Diagnosis
Diagnosis may start even before getting pregnant- in genetic screening for both parents. After birth, the newborns go through screening by a blood sample.
Treatment
Treatment includes a diet without lactose or galactose and a soy-based formula. Also, some fruits and vegetables are cut off the menu as well and vitamins supplements are recommended. Girls may require hormonal treatment starting from puberty.
☝️ This is not a substitute for professional medical advice. Please consult with your physician before making any medical decision.
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