Galactosemia

This condition is considered very rare, but we have seen several customers with this over the years; so I thought I would share some information with you about it. Galactosemia is a rare genetic metabolic disorder that affects a person’s ability to metabolize the sugar galactose properly.  Basically it means the person lacks an enzyme (lactase) needed to break down galactose.

Lactose is primarily found in dairy products and is broken down by lactase into glucose and galactose.  In this case the person lacks the enzymes to further break down or metabolize galactose because they are missing the enzyme or it is severely hampered.  This causes toxic levels of Galactose 1-phosphate in tissues. This can cause:

enlarged liver. cirrhosis, renal failure, cataracts, vomiting, seizure, hypoglycemia, lethargy, brain damage, ovarian failure, speech deficits, ataxia, diminished bone density

Without diagnosis and treatment infant mortality rate is 75%. Infants are routinely screened for this in the US.  Testing is done via a blood test from the heel or urine tests. The only treatment is completely eliminating Galactose and Lactose from the diet.

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