Galactosemia: Causes, Symptoms and Treatment
Galactosemia is a rare inherited metabolic disorder in which the body cannot properly break down galactose, a sugar found in milk. Without early treatment, it can cause severe organ damage.
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Galactosemia is a rare inherited metabolic disorder in which the body cannot properly break down galactose, a sugar found in milk. Without early treatment, it can cause severe organ damage.
What is Galactosemia?
Galactosemia is a rare, hereditary metabolic disorder in which the body is unable to fully metabolize the simple sugar galactose. Galactose is a component of lactose (milk sugar), found in breast milk, cow's milk, and many dairy products. When galactose cannot be properly processed, toxic byproducts accumulate in the blood, liver, brain, and other organs, leading to serious health complications.
Causes and Inheritance
Galactosemia is inherited in an autosomal recessive pattern, meaning a child must inherit one defective gene copy from each parent to develop the disorder. Depending on which enzyme is affected, three main types are distinguished:
- Classic Galactosemia (Type I): Deficiency of galactose-1-phosphate uridylyltransferase (GALT) – the most common and most severe form.
- Galactosemia Type II (Galactokinase Deficiency): Deficiency of galactokinase, primarily causing cataracts.
- Galactosemia Type III (Galactose Epimerase Deficiency): Deficiency of UDP-galactose-4-epimerase, with variable severity.
Symptoms
In classic galactosemia, symptoms typically appear within days of birth, once the newborn begins receiving breast milk or standard infant formula. Common signs include:
- Poor feeding and vomiting
- Jaundice (icterus)
- Enlarged liver (hepatomegaly) and liver failure
- Weight loss and failure to thrive
- Cataracts (clouding of the lens)
- Increased susceptibility to infections, especially Escherichia coli sepsis in newborns
- Long-term: cognitive impairment, speech and language developmental delays, neurological damage
- In females: premature ovarian insufficiency (primary ovarian insufficiency)
Diagnosis
In many countries, galactosemia is detected through routine newborn screening, performed a few days after birth. A small blood sample is tested for elevated galactose levels or reduced GALT enzyme activity.
Confirmatory diagnostic tests include:
- Measurement of enzyme activity in red blood cells
- Genetic testing to identify the causative gene mutations
- Quantification of galactose-1-phosphate in the blood as a marker of metabolic burden
- Urine analysis for reducing substances (galactosuria)
Treatment
Currently, no curative therapy (such as gene therapy) is available. Treatment is based on a lifelong, strict galactose-restricted diet:
- Complete elimination of breast milk, cow's milk, and lactose-containing products
- Use of specialized lactose-free infant formulas (e.g., soy-based or amino acid-based)
- Avoidance of galactose-containing foods such as dairy products, certain legumes, and organ meats
- Regular monitoring of galactose-1-phosphate levels in the blood
- Supportive therapies for complications (e.g., hormone replacement therapy for ovarian insufficiency, speech therapy, and neuropsychological support)
Despite dietary management, patients with classic galactosemia may still experience long-term complications such as learning difficulties, speech problems, and fertility issues in women. Regular follow-up at a specialized metabolic center is therefore essential.
References
- Schadewaldt P. et al. – Galactosemia. In: Hoffmann GF, Zschocke J, Nyhan WL (eds.): Inherited Metabolic Diseases. Springer, 2017.
- Demirbas D. et al. – Hereditary galactosemia. Metabolism. 2018; 83: 188–196. PubMed PMID: 29309795.
- Berry GT. – Galactosemia: When is it a newborn screening emergency? Molecular Genetics and Metabolism. 2012; 106(1): 7–11. PubMed PMID: 22385547.
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