- A 4-year-old boy presented with hematuria, edema, bleeding gums, tooth loss, paleness, and signs of malnutrition. Blood tests revealed low vitamin C and iron levels and low red blood cell count. A skin biopsy showed increased hemosiderin deposits near hair follicles. - The boy came from a low-income family that subsisted on a sparse diet of hard biscuits and milk. - Based on the visual signs, history, and test results, the boy was diagnosed with scurvy, which is caused by a vitamin C deficiency and results in a failure to synthesize collagen. Intravenous vitamin C treatment was started and full recovery was expected within two weeks.

1. Biochemistry 460 Case StudyScurvy
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 10th 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
1. Serum Ascorbic Acid (Vitamin C) Levels: .2 mg/dl, which is lower
than normal range of .3-.6 mg/dl. Indicates significant deficiency.
2. Serum Iron Levels: 45 ug/dl, which is lower than normal range for
children of 50-120 ug/dl. Indicates significant deficiency.
3. 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 17th 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!