Galactosemia

ConditionsDiseases List

• Disruption of galactose metabolism
  • Deficiency in galactose 1-phosphate uridyl transferase activity

Causes:

Genetic:

Route Of Transmission ROT:

LOC:

Pathogenesis:

Symptoms:

• Vomit or diarrhea after consuming milk
• Hepatomegaly
• Jaundice
• Cirrhosis
• Cataracts
• Lethargy
• Retarded mental development
• Blood galactose elevated
• Galactose in urine

Diagnosis:

• Absence of transferase in red blood cells

Treatment:

• Remove galactose from the diet
  • Prevents liver disease and cataract development
  • BUT CNS malfunction/delayed acquisition of language skills
    • Females = ovarian failurs

Prevention:

Additional Information: