lecture 18 Newborn Screening

What is Newborn Screening (

Test ALL babies right after birth
👉 To find diseases BEFORE symptoms appear

How is it done?

Heel prick → blood spot → lab test → follow-up

How can ONE test detect MANY diseases?

Mass spectrometry

From page 9:

👉 It can:

• Detect MANY metabolites at once

• Very fast + sensitive

What is PKU?

• Phenylalanine ↑

• Tyrosine ↓

• Toxic metabolites form

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💀 Without treatment:

• Intellectual disability

• Seizures

• Low IQ (~35)

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🔥 Treatment:

👉 Low phenylalanine diet FOR LIFE

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🧠 KEY IDEA:

👉 Problem = toxic buildup
👉 Solution = remove toxic substrate

MCAD Deficiency

What is it?

👉 Cannot break down fat for energy

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🧠 When does problem happen?

👉 During fasting

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💀 What happens?

From page 25:

• Hypoglycemia

• Seizures

• Sudden death