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Imagine that you are part of a research team that specializes in diagnosing disorders associated with...

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Medical Sciences

Imagine that you are part of a research team that specializes indiagnosing disorders associated with malfunctioningcellular organelles andstructures.Medical doctors consult your group tohelp diagnose particularly difficult cases.  Read thepatient history, physical examination and lab results toprovide a cellular explanation for the case below. In the answerbox type the tell the malfunctioning organelle (4points) AND Rationale for Diagnosis (6 points)(explanation of how history, physical examination andlaboratory results suggest diagnosis). Be sure to give all detailsas rationale counts majority of points.

Patient History:    

  • 2-day old male, Low birth-weight (4pds. 5 ounces), Difficultysuckling/swallowing, Seizures, Gastrointestinal bleeding

Physical Examination

  • Enlarged liver, Low muscle tone/inability to move, Glaucoma,Facial deformities, Impaired hearing
  • Jaundiced skin

Laboratory Results

  • High levels of hydrogen peroxide in cells
  • High levels of fats and amino acids in cells

Answer & Explanation Solved by verified expert
3.7 Ratings (364 Votes)
Malfunctioning organelle Peroxisomes Peroxisomes are membrane bound organelles present in cytoplasm that carry out break down of very long chain fatty acids They contain more than 50 enzymes that help in energy metabolism Lipid biosynthesis of plasmalogens also occurs in peroxisome along with production of bile acids One of the major products from fatty acid oxidation formed in peroxisomes is hydrogen peroxide    See Answer
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