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Questions and Answers
What condition may be a direct consequence of Galactosemia's impact on the liver?
Which of the following is NOT a major symptom of Galactosemia?
Which symptom of Galactosemia is primarily related to growth and development?
Which of the following symptoms could potentially affect a child's motor skills?
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Which of the following symptoms is NOT typically associated with metabolic defects like Galactosemia?
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Study Notes
Major Symptoms of Galactosemia
- Cataracts: A common eye condition in galactosemia patients, affecting vision due to clouding of the lens.
- Jaundice: Presents as yellowing of the skin and eyes, indicating liver dysfunction or increased bilirubin levels.
- Failure to Thrive: Infants may exhibit poor growth and development, often due to inadequate nutrient absorption.
- Sepsis: Increased risk of bacterial infections, potentially fatal, linked to immune system compromise.
- Hypoglycemia: Low blood sugar levels can occur, leading to fatigue, irritability, and in severe cases, seizures.
- Brain Edema: Swelling of the brain may arise, causing neurological deficits and increased intracranial pressure.
- Kidney Damage: Renal impairment can occur, affecting the body's ability to filter waste products.
- Coordination Issues: Patients may experience motor skill problems, impacting movement and balance.
- Behavioral Issues: Potential for psychological or developmental disorders, manifesting in social interactions and mood.
- Hepatocellular Damage: Damage to liver cells, resulting from accumulation of toxic substances due to metabolic dysfunction.
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Description
This quiz explores the significant symptoms associated with galactosemia, a genetic metabolic disorder. Test your knowledge on the manifestations such as cataracts, jaundice, and more, along with their implications for health and development.