Newborn Screening: Five Metabolic Disorders

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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?

Cataracts Signup and view all the answers

What is the main consequence of G6PD Deficiency in newborns?

Death if not treated Signup and view all the answers

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

Hormones Signup and view all the answers

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

Defect in the gene that helps create the enzyme needed to break down phenylalanine 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?

Deficiency of thyroid hormone Signup and view all the answers

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

Cretinism Signup and view all the answers

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

life threatening Signup and view all the answers

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

galactose 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.

enzyme Signup and view all the answers

Newborn Screening: Five Metabolic Disorders

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Questions and Answers

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

Which hormone is deficient in newborns with Congenital Adrenal Hyperplasia (CAH)?

What is the main consequence of untreated Phenylketonuria (PKU) in newborns?

What is the main cause of death if Galactosemia (GAL) is left untreated in newborns?

What is the main consequence of G6PD Deficiency in newborns?

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

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

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

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

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

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

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.

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