Classic Galactosemia

Galactosemia

Introduction:

Galactosemia (a high blood level of galactose) is caused by lack of one of the enzymes necessary for metabolizing galactose, a sugar present in lactose (milk sugar). Galactosemia is a clinically heterogeneous autosomal recessive congenital disorder of metabolism. Galactosemia is mostly observed in new born babies.

There are two types of galactosemia in found, Classic galactosemia and variant Galactosemia

 Classic galactosemia, results in potentially fatal complications, including feeding problems, delay in development, hepatocellular damage, bleeding and E. coli sepsis untreated new-born babies. If a lactose-restricted diet is provided during the first ten days of life, the neonatal signs usually quickly resolve

This is exemplified by the disease that occurs in african-Americans and native Africans of South Africa. People with variant galactosemia can be missed with newborn screening (NBS) as the hypergalactosemia is not as patent as in classical galactosemia and breath testing is normal. If a diet with lactose restriction is provided during the first ten days of life, serious acute neonatal complications are generally avoided. African-Americans with early variant galactosemia and treatment do not seem to be at risk of long-term complications, including

The most common formulas used for babies with galactosemia are those made with isolate.Isomil® Prosobee® and soy protein are two formulas that are made with soy protein isolate. If Soy milk contains galactose and should not be used.

3. Calcium supplements:

Since children with galactosemia are not eating milk products, calcium intake may be too low. Therefore, children with galactosemia are often advised to take calcium supplements to ensure they receive enough calcium each day.

4. Observing health

Babies and young children with galactosemia usually require regular blood tests and urine. These tests are used to sense toxic substances made when galactosemia is not in good control.

References:

 Wang, B. B., Xu, Y. K., Ng, W. G., & Wong, L. J. C. (1998). Molecular and biochemical basis of galactosemia. Molecular genetics and metabolism, 63(4), 263-269.

 McCorvie, T. J., & Timson, D. J. (2011). The structural and molecular biology of type I galactosemia: Enzymology of galactose 1‐phosphate uridylyltransferase.IUBMB life, 63(9), 694-700.

 Pagon, R. A., Adam, M. P., Ardinger, H. H., Bird, T. D., Dolan, C. R., Fong, C. T., ... & Berry, G. T. (2014). Classic Galactosemia and Clinical Variant