Invited Speaker at the 7th International World Congress of Diabetes and Endocrinology Lisbon, Portugal. July 17, 2023

What You Need To Know About Galactosemia

Galactosemia is a genetic disorder that causes an inability to process the sugar galactose, which is found in a wide variety of foods in the diet. Galactose is also part of milk sugar (lactose), found in all dairy foods. Galactosemia occurs in 1-in-30,000 to 60,000 infants. If your child is diagnosed with galactosemia, it’s wise to learn what this means for your child.

Internal medicine and endocrinology specialist Sam Morayati, MD, provides high-quality care to keep you and your loved ones as healthy as possible. As an endocrinologist, Dr. Morayati cares for patients with a range of metabolic diseases. Children diagnosed with galactosemia are started on dietary therapy, which involves avoiding galactose in the diet. 

What is galactosemia?

Children with galactosemia are unable to process galactose, causing it to build up in the bloodstream to harmful levels. Excess galactose in the bloodstream causes serious health problems, including an enlarged liver, kidney failure, and brain damage. 

Infants may not have symptoms at birth, but usually experience issues like vomiting, jaundice, and problems gaining weight soon after being born. People with galactosemia are typically diagnosed in infancy. If untreated, galactosemia is fatal in 75% of infants. 

How does galactosemia occur?

Children with galactosemia have inherited a mutated galactose-1-phosphate uridyl transferase (GALT) gene. This results in a deficiency of the GALT enzyme, which is needed to break down galactose. 

Galactosemia is an autosomal recessive genetic disorder. This means your child has inherited a faulty gene from each parent. Children who receive one working gene and one faulty gene are carriers and usually have no symptoms.

What foods contain galactose?

Galactose is primarily found in breast milk, certain formula, and dairy foods. It’s also found in other foods like honey, and legumes, as well as herbs like paprika and basil. Your child will need to follow a restricted diet to avoid health complications. 

Dairy foods are the main source of galactose in the diet, so children with galactosemia must follow a dairy-free diet. Your child will also need to avoid all other animal milk, including goat and sheep. Any foods made from animal milk are red flag foods to avoid. Your provider will provide a list of other red flag foods for your child to avoid. 

Galactosemia symptoms

Most newborns with classic galactosemia appear the same as healthy newborns. However, as your child begins to drink breast milk or formula that contains lactose, symptoms may begin to show. Some symptoms infants with galactosemia experience are:

It’s crucial to consult a doctor right away if you notice these symptoms. 

Treating galactosemia

Newborns in the United States are screened for various genetic, metabolic, and blood disorders to detect problems as soon as possible. If your child has galactosemia, Dr. Morayati will work with you to implement a low galactose diet for your child. 

Switching to a soy-based formula, and avoiding foods with animal milk is the primary treatment. When caught early, children with galactosemia lead normal lives. 

Galactosemia is simple to diagnose. Working closely with a healthcare provider helps to reduce the chances of complications. To learn more about managing galactosemia, and for other internal medicine and endocrinology needs, call our Burlington, North Carolina office or book online today to schedule a visit with Dr. Morayati.

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