Galactosemia defination Is a rare inherited condition where an individual has a compromised ability to metabolize the sugar galactose (a sugar in milk, including mother’s milk). Galactosemia occurs when an enzyme called Glucose 1-Phosphate Uridyl transferase enzyme (GALT) is either missing or not working properly which cannot break down galactose to glucose and buids up in blood in large amounts. Some of the organs that may be affected include the kidney, liver and brain.
Diagnosis is made within the first week of life. The gold standard for diagnosis of galactosemia is measurement of GALT (normal:<1mg/dl) activity in the blood or by gas chromatography.
The incidence is 1 in 60,000 live births.
Treatment should begin as the symptoms of tiredness, seizures, hypoglycaemia and poor weight gain appear.
Why Nutrition Management is important?
Galactosemia diet: The treatment is a low galactose diet. Incorporate a food plan which does not include lactose and galactose, while still eating the right amount of protein, nutrients and energy to maintain healthy growth of the baby. All milk and milk products must be avoided and incorporate metabolic formula which is devoid of galactose in any form. The diet is specific to each infant depending on the severity of condition, age, growth rate and result of diagnostic reports. Consult a dietician to fine-tune your child’s diet over time. Providing education and support for the family is the key to a successful long range of therapy. Effective treatment is best achieved by a team of specialists such as your Physician, Nutritionist, Geneticist, Neurologist, and Psychologist.