GALACTOSEMIA

DIAGNOSIS

• Age: Infant
• Symptoms: prolonged sleep,vomiting,malnutrition
• Possible diagnosis: cyclic vomiting syndrome (incorrect)
• Actual diagnosis: Galactosemia Type 1

GENETICS

• Chromosome #: 9 position 13
• Gene: GALT
• Protein affected:galactose-1-phosphate uridylyltransferase
• Normal function: turns galactose into glucose for energy
• How protein affects person with disorder: eliminates activity of the protein

MEDICAL

• Statistics: 1 in 30,000-60,000
• Treatment: Soy, Meat-based,and lactose-free formulas
• Prognosis: patients who avoid milk products can live
• A normal life. However mild intellectual impairment
• May develop.

MEDICAL SLIDE CONTINUED

• Possible Complications
• Delayed speech development
• Intellectual disability
• Severe infections with bacteria
• Death

INHERITANCE

• Types of inheritance: autosomic recessive

SOURCES

• Http://galactosemia.org
• Http://flipper.diff.org/ apptools/items/3994
• Ghr.nlm.nih.gov/condition/galactosemia