Galactosemia

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Galactosemia

• Sara Goldstein

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Galactosemia

• characteristics galactosemia affects the
  bodys ability to process galactose (a sugar
  found in dairy products)

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Mode of Inheritance

• galactosemia autosomal recessive (a child
  has to inherit one gene from each parent that is
  defective)
• galactosemia is on chromosome 9

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Punnett Square

• mom carrier dad carrier offspring
  25 normal 50 carrier 25 affected

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Symptoms of Galactosemia

• symptoms kidney failure, fine and gross motor
  skill delays, poor growth, and mental retardation
  (all as a result of the galactose build-up)

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Detection of Galactosemia

• galactosemia appears in approximately 1 in
  every 30,000 live births and can be detected by a
  blood test
• galactosemia is a universal genetic disorder
  everyone has equal chances of getting it

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Diagnostic Testing

• at birth, most babies are tested a small blood
  sample is taken from the baby's heel, and the
  doctors check for the level of the GALT enzyme
• galactosemia can also be detected before birth,
  by either 1) amniocentesis,
  or 2) taking a sample of fetal cells from the
  placenta

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Prognosis

• if untreated, 75 of all infants with
  galactosemia may die
• galactosemia is treatable

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Additional Health Problems

• galactosemia isn't usually life threatening
• the common health problems include cataracts,
  learning disabilities, poor growth, and speech
  disorders

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Treatment

• the only way to treat galactosemia is by changing
  one's diet
• people with galactosemia need to stay away from
  all foods and drinks that have galactose (ex
  milk, cheese, legumes, which are pods like peas
  or beans)

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Genetic Counseling

• for parents who are carriers of galactosemia, a
  genetic counselor would show them a punnett
  square for galactosemia
• the counselor would also explain that the chances
  of the parents' child inheriting galactosemia are
  25 (and a 50 chance of him/her being a carrier)

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Additional Interesting Facts

• the Duarte variant is another milder, more common
  type of galactosemia, and it affects
  approximately 1 in 16,000 live births

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Credits

• 1) Learn.Genetics
• http//learn.genetics.utah.edu/units/disorder
  s/whataregd/
• galactosemia/ index.cfm
• 2) Noah
• http//www.noah-health.org/en/genetic/conditio
  ns/
• galactosemia.html
• 3) American Liver Foundation
• http//www.liverfoundation.org/education/info/
  galactosemia
• 4) Genetics Home Reference
• http//ghr.nlm.nih.gov/conditiongalactosemia