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This page was put together by parents of a child with classic galactosemia. It is not a medical reference! It was put together as a means of getting some useful information about classic galactosemia to parents of a newly diagnosed child. Please keep this in mind as you read through this information. We hope this will provide immediate answers and alleviate some fears.

First, Congratulations on the birth of your new baby!

A very brief description of classic galactosemia

Classic galactosemia is very rare (occurs in about one in 50,000 - 60,000 births). Classic galactosemia is an inherited disorder that results in the absence of critical enzyme activity (GALT - Galactose 1 phosphate uridyltransferase). This absence of GALT activity leads to an accumulation of Galactose-1-Phosphate (Gal-1-P) in the blood. The accumulation of Gal-1-P is toxic to the body. Treatment of classic galactosemia requires adherence to a Galactose-restricted diet. The diet is to be followed for life!

Classic galactosemia is usually detected through newborn screening. While there are many very serious immediate neo-natal complications associated with classic galactosemia (such as: liver problems, kidney problems, e-coli sepsis, and eye damage), many of them can be avoided by starting the diet treatment ( i.e. soy formula) as soon as possible.

Classic galactosemia requires regular blood testing for Galactose -1- Phosphate (Gal-1-P). The target range of Gal-1-P for a classic galactosemic child is < 4 mg/100 ml RBC (RBC = red blood cell). There are differences of opinions on how often these blood tests should be performed. Check with your doctor about these blood tests. (NOTE: For newborns who have been feed breast milk or milk-based formula, it may take some time for the Gal-1-P levels to drop down to < 4 mg/100 RBC).

Unfortunately, the classic galactosemic diet is a controversial one. Different clinics, doctors, and parents follow different rules. Below is a list of diet guides that some parents follow. You can get these guides from your doctor/clinic/nutritionist. Please check with your own clinic for diet advice. It is important to follow your own doctor's advice, because what one clinic recommends for diet may not be what another recommends. We understand the frustration this brings and this is why we encourage all parents to gather as much information as they can, work with their clinic, so that they can make the best possible decision they can for their own child.

1) Understanding Galactosemia A Diet Guide
Lori Hartz, M.S. R.D.
Kimberly Pettis, R. D.
Sandy van Calcar, M.S. R.D.
Biochemical Genetics Program
University of Wisconsin-Madisom
Waisman Center, 1500 Highland Ave., Madison, WI

2) A Guide for the Family of the Child With Galactosemia
The Ross Metabolic Formula System, Ross Laboratories
Medical Editor: Phyllis B. Acosta, Dr. PH, RD

For years clinicians thought that children who were diagnosed early and put on a restricted diet would develop normally with no problems. Recent studies have shown that there are some long term complications associated with classic galactosemia. Some of these complications may include: fine and gross motor problems, speech problems, pre-mature ovarian failure (in girls) learning disabilities (mild-to severe), and tremors. Please know that while there are some long term complications associated with classic galactosemia - many children do well developmentally.

Because classic galactosemia is so rare, and new born screening for galactosemia was only developed a few decades ago, there remain many unanswered questions about long term complications. Experts are learning more each year.

Keep positive and get as informed as you can about classic galactosemia. Although classic galactosemia is very rare - you are not alone. There are many parents who know exactly how you feel. It is very helpful to communicate with other parents.

One place to go to ask advice from other parents is the discussion forum (message board) at www.galactosemia.com. This site offers a wonderful discussion forum through which parents communicate with others - asking questions or posting ideas.

You can also check out the e-mail roster on this site to find a parent in your state or near your city. Also, PGC's conferences provide a rare opportunity to speak with some experts and meet other families living with galactosemia.

The Texas State Dept. of Health has put a very comprehensive web page together about galactosemia.