Overview
Disorder of galactose metabolism is a group of inherited conditions where the body cannot properly break down galactose, a sugar found mainly in milk and dairy products. Galactose is normally converted into glucose (the body's main energy source) through a series of enzyme steps. When one of these enzymes is missing or not working correctly, galactose and its byproducts build up in the blood and tissues, causing damage to multiple organs. The most well-known and severe form is classic galactosemia, caused by a deficiency of the enzyme galactose-1-phosphate uridylyltransferase (GALT). Other forms include galactokinase deficiency and UDP-galactose-4-epimerase deficiency, each involving a different enzyme in the same pathway. Symptoms can range from life-threatening illness in newborns — including jaundice, liver failure, poor feeding, and serious infections — to milder forms that mainly cause cataracts. Treatment centers on removing galactose from the diet, which means avoiding milk, dairy products, and many processed foods containing hidden sources of galactose. Newborn screening programs in many countries can detect galactosemia early, allowing treatment to begin before serious damage occurs. Despite dietary treatment, some patients still experience long-term complications such as speech and language delays, learning difficulties, tremors, and ovarian insufficiency in females. Research into new therapies, including gene therapy and enzyme replacement, is ongoing but no curative treatment is currently available.
Key symptoms:
Jaundice (yellowing of the skin and eyes) in newbornsPoor feeding and failure to thriveVomiting and diarrhea after consuming milkLiver enlargement and liver damageCataracts (clouding of the eye lens)Serious bacterial infections, especially E. coli sepsisBleeding problemsLow blood sugarIntellectual disability or learning difficultiesSpeech and language delaysTremors or movement problemsOvarian insufficiency in females (early menopause or infertility)Reduced bone densityPoor growthBehavioral or social difficulties
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Disorder of galactose metabolism.
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Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Disorder of galactose metabolism.
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Caregiver Resources
NORD Caregiver Resources
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Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.What specific type of galactose metabolism disorder does my child have, and how severe is it?,What foods and ingredients do we need to avoid, and are there hidden sources of galactose we should know about?,How often should blood levels of galactose-1-phosphate be monitored?,What long-term complications should we watch for, and how can we reduce the risk?,Should my child receive early intervention services for speech and development, even before problems appear?,For girls: when should we start monitoring ovarian function, and what are the options if there is ovarian insufficiency?,Are there any clinical trials or new treatments being studied that my child might be eligible for?
Common questions about Disorder of galactose metabolism
What is Disorder of galactose metabolism?
Disorder of galactose metabolism is a group of inherited conditions where the body cannot properly break down galactose, a sugar found mainly in milk and dairy products. Galactose is normally converted into glucose (the body's main energy source) through a series of enzyme steps. When one of these enzymes is missing or not working correctly, galactose and its byproducts build up in the blood and tissues, causing damage to multiple organs. The most well-known and severe form is classic galactosemia, caused by a deficiency of the enzyme galactose-1-phosphate uridylyltransferase (GALT). Other fo
How is Disorder of galactose metabolism inherited?
Disorder of galactose metabolism follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Disorder of galactose metabolism typically begin?
Typical onset of Disorder of galactose metabolism is neonatal. Age of onset can vary across affected individuals.
Which specialists treat Disorder of galactose metabolism?
4 specialists and care centers treating Disorder of galactose metabolism are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.