Transcript Galactosemia

By: Matt DeBiasi and Mike Del russo
GALACTOSEMIA
• Is a rare genetic metabolic
disorder that affects an individuals
ability to break down food and
sugar called galactose ( usually
found in milk and other dairy
products).
Symptoms
• If an infant is breast feeding and is
experiencing poor weight gain it is most
likely caused by Galactocemia.
• Other symptoms include:
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Jaundice
Vomiting
Lethargy
Irritability
Treatments
• The main treatment for Galactosemia is to
avoid drinking milk and all other dairy
products.
• It is good to eat all meat items, though this
may not always help.
Life time limitation
• Galactosemia may cause speech and
language complications.
• It may also effect motor skills and cause
specific learning disabilities.
• All of which can become very severe.
Inheritance Pattern
• People with galactosemia
have an autosomal recessive
pattern
Mutation
• The arginine 188 mutation is the
most common galctosemia
mutation characterized to date
Incidence
• 2 out of every 100,000 people get
galactosemia.
• They find out if the if you have
galactosemia right at birth.