DISEASE SCANNER

Global Incurable Diseases Tracker

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Genetic Disorder

Galactosemia

HIGH SEVERITY

An inherited disorder affecting galactose metabolism due to deficiency of GALT, GALK, or GALE enzymes. Classic galactosemia (GALT deficiency) is most severe. Galactose-1-phosphate accumulates, causing multi-organ damage if untreated.

Global Affected

20.0K

Countries

15

Symptoms

Jaundice
Vomiting
Hepatomegaly
Cataracts
Sepsis (E. coli)
Failure to thrive
Intellectual disability
Ovarian failure (females)

Treatment Options

Genetic counseling
Supportive care
Symptom management
Enzyme replacement (if applicable)
Physical therapy
Regular monitoring
Multidisciplinary care

Risk Factors

1Family history
2Genetic mutations
3Consanguinity
4Advanced paternal age
5Ethnic predisposition

Diagnostic Methods

  • 1Genetic testing
  • 2Clinical evaluation
  • 3Family history assessment
  • 4Specialized laboratory tests
  • 5Imaging studies
  • 6Biopsy (if applicable)

Prognosis

Good with early dietary intervention. Cognitive outcomes variable even with treatment. Speech and language delays common. Ovarian failure in females. Cataracts preventable with diet.

Prevention

  • Genetic counseling
  • Carrier screening
  • Prenatal diagnosis
  • Preimplantation genetic diagnosis
  • Family planning

Research Status

Lactose-free/galactose-free diet from birth. Newborn screening allows early intervention. Despite treatment, long-term complications include cognitive impairment, speech difficulties, and ovarian failure. Research on new therapies ongoing.

Affected Countries

AustraliaBrazilCanadaGermanySpainFranceUnited KingdomIrelandItalyJapanMexicoSingaporeSloveniaUnited StatesSouth Africa

Sources

  • https://www.ncbi.nlm.nih.gov/books/NBK1116
  • https://medlineplus.gov/genetics
  • https://rarediseases.org

Medical Disclaimer

This information is for educational purposes only. Always consult healthcare professionals for medical advice, diagnosis, and treatment.