Biochemistry 460 Case Study

ScurvyAustin McCullough

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

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.

What is your initial diagnosis for Sauron?

Test Results• Blood tests1. 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.

How would you interpret these results?

InterpretationVISUAL• 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.

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.

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.

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.

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.

Post-TreatmentCongratulations, 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!