Scurvy Case Study

Extra Credit for BIOC 460 Final

1. Biochemistry 460 Case Study Scurvy Austin McCullough

2. Consider the following patient 4 year old male Sauron was brought in for consultation exhibiting hematuria, possible anemia, edema in his right leg, bleeding gingiva with a single tooth (signs of tooth loss visible), irritability, paleness, sweating, dry/cracked hair, and apparent signs of malnourishment. Patient is afebrile with no signs of organomegaly

3. Patient History Sauron is the 10 th born child of a low income household. This family has experienced infant mortality previously in the form of malnutrition and dehydration. Sauron’s family are subsistence farmers with a diet consisting mainly of hard biscuits and milk.

4. What is your initial diagnosis for Sauron?

5. Test Results Blood tests Serum Ascorbic Acid (Vitamin C) Levels: .2 mg/dl, which is lower than normal range of .3-.6 mg/dl. Indicates significant deficiency. Serum Iron Levels: 45 ug /dl, which is lower than normal range for children of 50-120 ug /dl. Indicates significant deficiency. Red blood cell count: was 4.1 million/ mcL which is lower than the normal range for children of 4.6-4.6 million/ mcL Skin Biopsy: Deposition of hemosiderin is evident near hair follicles. Hair is coiled and dry.

6. How would you interpret these results?

7. Interpretation VISUAL Evidence of periodontal deterioration along with evident tooth loss, anemia, fatigue/irritability due to malnutrition, and edema of extremities suggest a possible general deficiency of structural protein synthesis. HISTORICAL Child has personal and familial history of malnutrition. Considering the child’s sparse diet and low family income, a Vitamin C deficiency is suspected. TEST RESULTS Blood serum Vitamin C and Iron levels were dangerously low. Red blood cell count was also below normal. These results when viewed with visual and historical context indicate scurvy as a likely diagnosis. Scalp biopsy can confirm diagnosis with presence of increased hemosiderin deposits and dry coiled follicles.

8. Ascorbic Acid Structure Ascorbic Acid is an antioxidant and mild reducing agent It is useful for its ability to transfer a single electron Single electron transfer allows Ascorbic acid to terminate free radical molecules produced from spontaneous oxidation reactions in the body. These free radicals can react with important cellular molecules such as nucleic acids and interfere with fundamental cell function.

9. Ascorbic Acid Interactions Ascorbic Acid is a key molecule in the synthesis of collagen, one of the most important structural proteins in the human body. Ascorbic acid can also aid in the assimilation of dietary iron. Vitamin C deficiencies can cause deposits of iron storage molecules (hemosiderin) to form near hair follicles in the skin. Ascorbic Acid facilitates collagen synthesis by catalyzing the hydroxylation of prolyl and lysyl procollagen residues by prolyl/ lysyl hydroxylase enzymes to begin cross linking and helix formation of collagen. Procollagen precursor polypeptide formation is one of the first steps in collagen synthesis and one of the most important.

10. Scurvy Facts and Statistics More common in low income areas More common in urban regions Less common in developed countries Scurvy is common in small mammals that cannot biosynthesize Ascorbic Acid such as guinea pigs and hamsters If left untreated, death can occur within a month in humans, and within 24 hours in small mammals Scurvy was a common disease and cause of death among 17 th century sailors when importance of micronutrients was not well understood.

11. Treatment Ascorbic acid can be administered orally or intravenously. Intravenous treatment is preferred in case of prolonged deficiency. Signs and symptoms of scurvy can begin to retreat within 48 hours of Vitamin C consumption. Full recovery is expected within two weeks. Severe dental damage incurred when suffering from the disease such as tooth loss and tooth decay are permanent without further dental care and are not reversed simply due to ascorbic acid intake.

12. Post-Treatment Congratulations, you saved a life with your educated diagnosis and treatment using your expansive knowledge of biochemistry!!! I am sure this kid will grow up to do great things all thanks to you!