Galactosemia is a genetic metabolic condition caused by pathogenic variants, or mutations, in the GALT gene or, less commonly, in the GALK, GALE or GALM genes. Type 1 galactosemia can be life-threatening for newborns and can cause lifelong cognitive, neurological, speech and fertility complications. 

The current standard of care for galactosemia is a lactose-restricted diet. Galactose is one half of lactose, the sugar found in milk, and must be restricted because it's broken down into galactose. If lactose is removed from a newborn’s diet quickly, the most severe symptoms, like liver failure and death, may be avoided. However, the body produces endogenous galactose, which means it produces galactose naturally, no matter what foods are eaten. So, even when the recommended diet is strictly followed, lifelong complications can still occur.

Some common questions about galactosemia

What are the symptoms of galactosemia?

• Failure to thrive 
• Weight loss
• Loss of appetite, vomiting
• Jaundice (yellowed skin)
• Enlargement of the liver 
• Abdominal swelling
• Diarrhea
• Irritability
• Lethargy‍
• Developmental delays
• Speech and cognitive problems
• Motor issues
• Seizures
• Cataracts
• Ovarian insufficiency

What causes galactosemia?

Galactosemia is caused by pathogenic variants, or mutations, in the GALT gene or, less commonly, in the GALK, GALE or GALM genes. This leads to reduced activity of enzymes involved in the breakdown of galactose (a simple sugar), which results in an inability to metabolize (use) galactose.

Is galactosemia the same as lactose intolerance?

No, having galactosemia is not the same as being lactose intolerant. People who are lactose intolerant need to avoid large amounts of lactose in foods because they lack the enzyme required to break lactose down into glucose and galactose. People with galactosemia can usually digest lactose, but encounter problems once the galactose enters their bloodstream.

How many people get galactosemia?

According to MedlinePlus, classic galactosemia occurs in 1 in 30,000 to 60,000 newborns.

How is galactosemia diagnosed?

Galactosemia can be identified through newborn screening programs using a blood sample taken soon after birth. The diagnosis may be confirmed with blood and urine tests, and genetic testing can identify the specific pathogenic variants in the affected gene. Infants with galactosemia may appear healthy at birth, but will shortly lose their appetites and begin vomiting.

Read more about galactosemia

• Galactosemia Foundation (an AllStripes patient advocacy group partner) Established in 1985, the Galactosemia Foundation is a non-profit charitable organization that provides information about galactosemia and facilitates connections between families, clinicians and researchers.

• Galactosemia (NORD)
• Galactosemia (NIH)
• Galactosemia (MedlinePlus)
• Galactosemia (Boston Children’s Hospital)

Stories from the Galactosemia community 

• Breyden’s Story (2014) Breyden’s parents were overwhelmed when they received their son’s galactosemia diagnosis, and initially struggled to get clear information about the disease. 

• Growing up with Galactosemia (2012) A Minnesotan family’s son was rushed to the ER at 5 days old, but thanks to newborn screening results, doctors were able to prevent the worst symptoms associated with galactosemia. 

• Galactosemia - A family's fight against this rare orphan disease (2011) After Oliver was diagnosed with galactosemia, his parents were determined to fundraise research efforts toward making life better for families’ like theirs.

• “Failed to Communicate: Steven Coffee II's Story” (~2018) Though Steven Coffee II was diagnosed with galactosemia when he was born prematurely, the Coffees’ doctor failed to communicate the severity of the diagnosis, which left his parents scrambling to find treatment.

• The Edmons Family’s Story (2018) Reid Edmons was diagnosed with Duarte galactosemia (a milder variant of the disease) at 26 days old, which meant he was eventually able to tolerate a 50% breastmilk/50% soy formula diet.

Hashtags to follow include #galactosemia & #galactosemiafriendly

Are you a member of the galactosemia community with a resource to add to our list? Email us at content@allstripes.com!

Galactosemia patient advocacy groups

• Galactosemia Foundation (an AllStripes patient advocacy group partner)Established in 1985, the Galactosemia Foundation is a non-profit charitable organization that provides information about galactosemia and facilitates connections between families, clinicians and researchers.

• Metabolic Support UK A UK-based charitable organization founded in 1981 to connect families impacted by galactosemia with each other, fund research and raise awareness in the medical, health and social care fields.‍
• Canadian Liver Foundation A liver research organization formed in 1969 that aims to provide peer support to those diagnosed with liver disease (a potential complication of galactosemia).‍‍

• Galactosemia Support Group A UK-based organization that connects families and individuals with each other for support.

Ways to get involved 

• ClinicalTrials.gov ClinicalTrials.gov is an online resource from the National Institutes of Health (NIH) that provides access to information about clinical studies on a wide range of conditions.

• Orphanet Orphanet is an online portal that provides access to information related to rare diseases for both patients and medical professionals in order to improve the diagnostic processes and treatments.

• Galactosemia Patient Registry The Galactosemia Patient Registry collects, stores and retrieves patient data for analysis in research studies related to galactosemia.
• Galactosemia Foundation The Galactosemia Foundation website lists current research projects for studies related to galactosemia.

• AllStripes AllStripes is a Public Benefit Corporation on a mission to unlock new treatments for people affected by rare disease. Learn more about us by visiting our FAQs page. 

Galactosemia in the media

• “FDA Requests Clinical Outcomes Data for Galactosemia Treatment” (1/5/22) Makers of the drug AT-007, a potential treatment for galactosemia, had hoped to submit an application for accelerated approval by the FDA, but have been asked to provide more clinical data before doing so.

• “Jaguar to pump $125M into North Carolina gene therapy manufacturing facility” (11/1/21) In 2021, Jaguar Gene Therapy announced plans to spend $125 million to expand its North Carolina–based gene therapy facility, with plans to work on gene therapy for galactosemia (among other diseases). 

• “Williamston mom raises awareness to galactosemia on Rare Disease Day” (2/29/20) A Michigan-based mother of two daughters with galactosemia held a virtual research fundraising event in 2020.

• “As two kids fight rare disorder, mom seeks to inform others about galactosemia” (3/25/17) An Indiana-based mother describes the challenges she faces in feeding two daughters with galactosemia, and the online forums she joined for support.

• “Newborn screening delay costly for mother whose milk was poisoning her baby” (4/13/15) Because a Canadian mother didn’t receive the results of her baby’s blood tests until 5 days after blood was drawn, she didn’t know her daughter had galactosemia, or that the milk she fed her child was making her dangerously ill.

Galactosemia resources

• Galactosemia Resources Provides a link to an extensive spreadsheet of medical professionals and centers specializing in galactosemia, as well as links to galactosemia-focused social media accounts.

• Cigna — Galactosemia Test FAQ An insurance provider’s page with detailed information that answers questions you may have prior to an infant’s galactosemia test.

• Health Insurance Marketplace If you do not currently have health insurance and live in the U.S., this link will help you determine if you are eligible for Medicaid or CHIP (Children’s Health Insurance Program). 

• Newborn Screening Portal This page on the CDC website provides information as well as a number of resources for parents who have done, or are planning to do, newborn screening.

• Baby’s First Test A newborn screening educational resource center for U.S. families and health professionals. The classic galactosemia page includes information on newborn screening, early signs, treatment, expected causes, support services and accessing care.

Related metabolic conditions

• Hypoglycemia and low blood sugar A condition in which glucose (blood sugar) is low. While typically associated with diabetes, hypoglycemia can also be caused by rare diseases. 

• Phenylketonuria PKU A rare disease that causes a buildup of an amino acid called phenylalanine in the body. People with PKU can experience a dangerous buildup when they consume foods with protein, or aspartame, an artificial sweetener.

This resource was created with input from the Galactosemia Foundation.