Newborn Screening: Five Metabolic Disorders
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Questions and Answers

What is the main consequence of untreated Congenital Hypothyroidism (CH) in newborns?

  • Low blood sugar levels
  • Impaired respiratory function
  • Stunted growth and physical deformities (correct)
  • Increased heart rate
  • Which hormone is deficient in newborns with Congenital Adrenal Hyperplasia (CAH)?

  • Testosterone
  • Cortisol (correct)
  • Insulin
  • Thyroid hormone
  • What is the main consequence of untreated Phenylketonuria (PKU) in newborns?

  • Low blood pressure
  • Severe mental retardation (correct)
  • Respiratory distress
  • Kidney failure
  • What is the main cause of death if Galactosemia (GAL) is left untreated in newborns?

    <p>Cataracts</p> Signup and view all the answers

    What is the main consequence of G6PD Deficiency in newborns?

    <p>Death if not treated</p> Signup and view all the answers

    What is the main treatment for Congenital Adrenal Hyperplasia (CAH) in newborns?

    <p>Hormones</p> Signup and view all the answers

    What is the main cause of severe mental retardation in newborns with Phenylketonuria (PKU)?

    <p>Defect in the gene that helps create the enzyme needed to break down phenylalanine</p> Signup and view all the answers

    What is the main cause of stunt growth and physical deformities if Congenital Hypothyroidism (CH) is not treated in newborns?

    <p>Deficiency of thyroid hormone</p> Signup and view all the answers

    Congenital Hypothyroidism (CH) is previously known as ______, is a severe deficiency of the thyroid hormone in newborns.

    <p>Cretinism</p> Signup and view all the answers

    Congenital Adrenal Hyperplasia (CAH) is characterized by adrenal insufficiency which may be ______.

    <p>life threatening</p> Signup and view all the answers

    Galactosemia (GAL) is a condition in which the body is unable to metabolize the simple sugar ______.

    <p>galactose</p> Signup and view all the answers

    Phenylketinuria (PKU) is an inherited disorder that causes an amino acid called phenylalanine to build up in the blood. It is caused by a defect in the gene that helps create the ______ needed to break down phenylalanine.

    <p>enzyme</p> Signup and view all the answers

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