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Question

What diseases can be determined by biochemical methods?


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Solution

Biochemical methods: These methods are used to diagnose hereditary metabolic exchange diseases and are determined at three levels:

  1. Molecular (examination of protein structure and amount)
  2. Cellular (evaluation of defective enzymes)
  3. Organismal (searching for intermediate metabolites)

Biochemical methods can be used to diagnose the following diseases:

  1. Hemoglobinopathy,
  2. Amino acid exchange failure (phenylketonuria, alkaptonuria)
  3. Carbohydrate-substrate diseases (diabetes mellitus, galactosemia, fructoseuria)
  4. Lipid-substrate diseases (hypercholesterolemia, amaurotic idiocy)
  5. Mineral-substrate diseases (Hemochromatosis, Konovalov-Wilson illness)

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