Galactosemia
Also known as: GALT Deficiency, Classic Galactosemia, Galactose-1-Phosphate Uridyltransferase Deficiency
Galactosemia is a rare inherited metabolic disorder that affects an individual's ability to metabolize galactose, a sugar found in milk and other dairy products, as well as some fruits and vegetables. This occurs due to a deficiency in one of the enzymes needed to convert galactose into glucose, which the body uses for energy. The most common and severe form is classic galactosemia, caused by a deficiency in the galactose-1-phosphate uridyltransferase (GALT) enzyme. Early diagnosis and dietary management are crucial to prevent serious complications.
Imagine your body has trouble using a type of sugar called galactose, which is in milk. Galactosemia is when your body can't break down galactose properly. If you have it, you need to avoid milk and some other foods to stay healthy.
Signs & Symptoms
- Feeding difficulties
- Vomiting
- Diarrhea
- Lethargy
- Jaundice
- Hepatomegaly (enlarged liver)
- Failure to thrive
- Cataracts
- Intellectual disability (if untreated)
- Seizures
- Increased risk of E. coli sepsis in newborns
- Ovarian failure in females
Treatment Options
Galactose-free diet
HIGHLY EFFECTIVECalcium supplementation
SUPPORTIVEVitamin D supplementation
SUPPORTIVESpeech therapy
SUPPORTIVEOccupational therapy
SUPPORTIVEDiagnosis
- Newborn screening (GALT enzyme activity)
- Quantitative GALT enzyme assay
- Galactose-1-phosphate levels in red blood cells
- Genetic testing for GALT gene mutations
History
Galactosemia was first described in 1917 by Von Reuss. The enzymatic defect was identified by Leloir in the 1950s, leading to the development of newborn screening programs and dietary interventions that have dramatically improved the prognosis for affected individuals.
Recent Breakthroughs
Advances in Understanding Long-Term Complications of Galactosemia
Research continues to investigate the underlying mechanisms of long-term complications in galactosemia, such as speech and motor deficits, despite dietary treatment. Studies are focusing on the role of specific galactose metabolites and their impact on brain development.
Novel Biomarkers for Monitoring Galactosemia
Researchers are exploring novel biomarkers to improve the monitoring of galactosemia and predict long-term outcomes. These biomarkers may help to identify individuals at higher risk of complications and tailor treatment strategies accordingly.