Pre-Conception and First Trimester Second Trimester Newborn

Galactosaemia

This is an inherited disorder that results in the inability to break down the sugar galactose, which is found in all milk and milk products. Within the first two weeks of life, untreated infants born with this condition experience vomiting, liver disease, mental retardation, and failure to thrive, which may result in death. Diagnosis is usually confirmed by measuring the activity of the enzyme that is normally deficient in this condition (galactose-1-phosphate uridyl transferase).
Treatment is a lifelong galactose (and therefore milk) free diet.

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