Galactosemia: A-to-Z Guide from Diagnosis to Treatment to Prevention

Baby drinking milk from a baby bottle with an odd look on his face. Could it be Galactosemia?Introduction to galactosemia:

Lactose is an important source of calories for most babies, whether from breast milk or formula. For babies with galactosemia, lactose becomes a poison.

What is it?

Lactose, or milk sugar, is made up of two simple sugars: glucose and galactose. Classic galactosemia is a condition where children lack the enzyme necessary to process galactose. Byproducts of galactose build up in the blood and are toxic to the kidney, liver, and brain. Also, byproducts of galactose can destroy ovaries (but not testicles, for unknown reasons).

Galactose is found in the diet primarily as lactose (in breast milk, milk-based formula, milk, cheese, butter, and many nutritional and pharmaceutical extenders). Galactose is now known to be present in many foods that do not contain lactose, especially beans and peas.

Who gets it?

Classic galactosemia is a rare recessive genetic disorder. The child with classic galactosemia inherits a gene for galactosemia from both parents, who are carriers.

What are the symptoms?

Children with classic galactosemia get very sick – unless lactose is removed from the diet. Most die during infancy if it is not identified and treated. Common symptoms include jaundice, feeding difficulties, vomiting, poor weight gain, irritability, lethargy, seizures, cataracts, and mental retardation. The liver and spleen are usually enlarged.

Serious E. coli infections are more common in newborns with galactosemia. In fact, the infection may be diagnosed before the galactosemia.

Adolescent girls with galactosemia will usually not begin monthly periods.

Is it contagious?


How long does it last?

It is a lifelong condition.

How is galactosemia diagnosed?

Widespread newborn screening in the United States has made undetected galactosemia uncommon. For those who have not been screened, a blood test or urine test can screen for the condition. Most people with galactosemia will develop obvious symptoms in infancy.

How is it treated?

It is treated by removing lactose from the diet. Lactose is not a necessary part of the diet. Soy formulas are often used for babies. When babies begin solid foods, other sources of galactose must be avoided.

Removing galactose from the diet may prevent further damage to the kidney, liver, and brain. Cataracts go away, and growth problems resolve. Ovarian failure and learning problems are still common.

Strict observance of the diet does not always go along with the best outcome, suggesting either some damage before birth, or other factors involved.

How can it be prevented?

Galactosemia is not preventable, but further damage is often preventable by removing galactose from the diet.

Dr. Alan Greene

As a father of four himself, Dr. Greene has devoted himself to freely giving real answers to parents' real questions -- from questions about those all too common childhood conditions to those that address the most recent and rare pediatric illnesses. His answers combine cutting edge science, practical wisdom, warm empathy, and a deep respect for parents, children, and the environment. He is also an electrifying public speaker, and has personally touched many during his talks in North America, Europe, Asia, and the Middle East.

Dr. Greene is a graduate of Princeton University and the University of California at San Francisco. Upon completion of his pediatric residency program at Children's Hospital Medical Center of Northern California he served as Chief Resident. He entered primary care pediatrics in January 1993.

Dr. Greene is the Past President of The Organic Center and on the Board of Directors of Healthy Child Healthy World. He is a founding partner of the Collaborative on Health and the Environment. He also consults for the Environmental Working Group.

In 1995, he launched, cited by the AMA as “the pioneer physician Web site” on the Internet. His award-winning site has received over 80 million Unique Users from parents, concerned family members, students, and healthcare professionals. In addition to being the founder of, he is the Medical Director for HealthTap.

In 2010 Dr. Greene founded the WhiteOut Movement to change how babies in the United States are fed. In 2012 he founded TICC TOCC - Transitioning Immediate Cord Clamping To Optimal Cord Clamping. He is also the founder of KidGlyphs, a free iPhone app that provides a tool for young children to express themselves beyond their verbal skills while teaching them important language skills.

Dr. Greene is the Founding President of the Society for Participatory Medicine and has served as both President and Board Chair of Hi-Ethics (Health Internet Ethics. He is on the Board of Directors for Healthy Child Healthy World, The Lunchbox Project, and The Society for Participatory Medicine. He has also served as an advisor to URAC for both their inaugural and their updated health web site accreditation program. He is a founding member of the e-Patient Scholars Working Group, and a founding board member of the Center for Information Therapy.

Dr. Greene is a regular columnist for Parenting Magazine. He is also the Pediatric Expert for The People’s Pharmacy (as heard on NPR) and Healing Quest (seen on PBS stations). He was the original Pediatric Expert for both Yahoo! and iVillage.

Dr. Greene is the author of Feeding Baby Green (Wiley, 2009), Raising Baby Green (Wiley, 2007), From First Kicks to First Steps (McGraw-Hill, 2004), The Parent's Complete Guide to Ear Infections (People's Medical Society, 1997), and a co-author of The A.D.A.M. Illustrated Family Health Guide (A.D.A.M., Inc., 2004). He is the medical expert for three additional books, The Parent's Soup A-to-Z Guide to Your New Baby, (Contemporary Books, 1998) The Parent's Soup A-to-Z Guide to Your Toddler, (Contemporary Books, 1999), and The Mother of All Baby Books, (Hungry Minds, Inc., 2002).

Dr. Greene is a frequent keynote speaker at important events such as Health 2.0 2011 held in San Diego, CA, IFOAM 2008 (International Federation of Organic Agriculture Movements), held in Modena Italy, the first European Internet health conference, held in Maastricht, the first International eHealth Association Conference, held in Jeddah, and the largest e-Healthcare World Conference, held in Las Vegas, and the first Green Power Baby Shower, held in Hollywood. Dr. Greene also appears frequently on TV, radio, websites, and in newspapers and magazines around the world, including such venues as the TODAY Show, Good Morning America, Fox and Friends, The Dr. Oz Show, CNN, ABC, CBS, and NBC network news, NPR, The New York Times, The Wall Street Journal, USA Today, Time Magazine, Parade, Parenting, Child, Baby Talk, Working Mother, Better Home's & Gardens, and the Reader's Digest.

Dr. Greene loves to think about challenging ideas, he enjoys being where nothing manmade can be seen, and he wears green socks.

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