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Phenylketonuria Diagnosis: Defective Process

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Phenylketonuria Diagnosis: Defective Process

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Questions and Answers

What is the likely reason why the newborn was not diagnosed with Phenylketonuria earlier?

The doctor failed to perform the necessary tests

The disease is rare and hard to diagnose

The parents did not report any symptoms

The baby was a home birth and did not undergo genetic testing (correct)

What is the main consequence of the defective process leading to Phenylketonuria?

Accumulation of tyrosine

Accumulation of methionine

Accumulation of branched chain amino acids

Accumulation of phenylalanine (correct)

Which of the following is NOT a direct result of the defective process leading to Phenylketonuria?

Tyrosine degradation

Phenylalanine degradation

Methionine degradation

Urea synthesis (correct)

What is the primary symptom presented by the newborn in this scenario?

Neurological issues Signup and view all the answers

Which of the following is the most likely cause of the newborn's neurological issues?

Accumulation of phenylalanine Signup and view all the answers

What is the primary function of insulin?

To facilitate glucose uptake in cells Signup and view all the answers

What is the result of insulin receptor mediated signaling?

Increased glucose uptake in muscle cells Signup and view all the answers

What is a characteristic of insulin resistance?

Decreased glucose uptake in muscle cells Signup and view all the answers

What is a major component of metabolic syndrome?

Hypertension Signup and view all the answers

What is the purpose of treating metabolic syndrome?

To reduce the risk of cardiovascular disease Signup and view all the answers