Newborn Screening for Metabolic Disorders

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10 Questions

What is the purpose of early detection of metabolic or genetic diseases in newborns?

To promptly initiate medical treatment

Which of these metabolic disorders is NOT mentioned in the provided content?

Maple syrup urine disease (MSUD)

When should newborn screening be ideally performed?

Within 48 hours or at least 24 hours from birth

What method is used for newborn screening according to the text?

Heel prick method

What causes congenital hypothyroidism?

Reduced production of both T4 and T3

What is the main method for detecting glucose-6-phosphate dehydrogenase deficiency (G6PD) in newborns?

Heel prick method

Which metabolic disorder involves the inability to metabolize galactose properly?

Galactosemia

Which gland is affected in congenital hypothyroidism?

Thyroid gland

What is the primary concern if a newborn is not screened for metabolic disorders in time?

Potential metabolic crises

What is the minimum drying time mentioned for the absorbent card used in the heel prick method?

Four hours

Early detection of newborns at risk for selected metabolic or genetic diseases, enabling prompt medical treatment to prevent severe consequences. This includes Congenital Adrenal Hyperplasia, Phenylketonuria, Congenital Hypothyroidism, Galactosemia, and Glucose-6-Phosphate Dehydrogenase deficiency.

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