Inborn Errors of Metabolism

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1. What is the metabolic deficiency of Phenylketonuria?

  • Lack of production of phenylpyruvate
  • Phenylalanin is not metabolised to tyrosine
  • Excess production of phenylalanine hydroxylase
  • Lack of production of phenylketones
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Other questions in this quiz

2. Which of the following is a diagnosis method for Phenylketonuria

  • Bacterial inhibition method
  • Plasma Amino Acid Analysis
  • Heel Blood Test
  • Blood Test

3. What is one of the main symptoms of phenylketonuria?

  • Black urine
  • Chronic lower back pain
  • Musty odour in breath, skin and urine
  • Sweet smelling urine

4. What is another name for MSUD

  • branched-chain alpha-keto acid dehydrogenase disease
  • Homogentisic acid disease
  • Branched-chain keto aciduria
  • branched-chain alpha-keto disease

5. Which of the following is a diagnosis method for MSUD ONLY?

  • Bacterial inhibition method
  • Gas chromotography
  • DNA testing
  • Genetic testing

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