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Directions: Follow the outline below to prepare your case presentation. You must include (3) multimedia aspects such as photos, videos, and graphs to obtain full credit!
Etiology
Explain the metabolic pathway affected and the consequences of enzyme dysfunction.
Typical Physical & Laboratory Findings
List key clinical signs and symptoms.
Describe characteristic laboratory findings (e.g., enzyme activity levels, metabolite accumulation, biomarkers).
Typical Disease Course & Prognosis
Outline disease progression, from early symptoms to late-stage complications.
Discuss the expected prognosis with and without treatment.
Evidence-Based Management Strategies
Summarize current standard treatments (pharmacologic, dietary, gene therapy, enzyme replacement). Reference peer-reviewed studies or clinical guidelines supporting these treatments.
Goals of Therapy
Define the primary objectives of treatment (e.g., symptom management, metabolic correction, preventing complications).
Approach to Individualizing Therapy & Special Patient Populations
Discuss how therapy might vary based on factors such as age, severity, comorbidities, etc…
Address ethical considerations, accessibility of treatment, or emerging personalized medicine approaches.
Vitamin C Deficiency- Scurvy
Etiology: Most mammals synthesize Vitamin C from glucose, as it shares some chemical resemblance. Humans however lack the active form of the enzyme L-gluconolactone oxidase required to synthesize ascorbic acid (vitamin C). This means that humans have to acquire vitamin C from their diet or supplements. Therefore the primary cause of vitamin C deficiency is inadequate nutritional intake (1).
Physical and Laboratory Findings: Scurvy is another term for vitamin C deficiency. It takes 4 to 12 weeks for nonspecific symptoms to emerge. Patients may present with fatigue, malaise, lethargy, and anorexia. Patients may also experience oral and skin symptoms such as bleeding gums, easy bruising, skin rashes, fragility, delayed wound healing, and bone and joint aches. Other physical symptoms may include but are not limited to painful joint swelling, hemarthroses, subperiosteal hematomas, fragile bones that are prone to fractures, dry eyes, subconjunctival hemorrhages, and scleral icterus (1).
Scurvy can progress to be severe and life-threatening and include the following symptoms: flame hemorrhages, cotton-wool spots, profound weakness, dyspnea, anasarca, hemolysis, jaundice, seizures, organ failure, and ultimately, death (1).
Disease Course and Prognosis: Once symptoms are recognized and treatment begins, symptoms of fatigue, body aches, and anorexia generally improve within 24 hours of treatment. Symptoms such as bruising, gingival bleeding, perifollicular hemorrage, and weakness tend to respond about 1-2 weeks after treatment begins. Corkscrew hairs usually return to normal after 1 month. At 3 months most symtoms tend to be completely resolved. Surgical intervention could be necessary to correct any sever and advanced bone abnormalities (1).
Evidence-Based Management Strategies: Vitamin C levels can be replenished using dosages up to 300 mg/d for children and 500-1000 mg/day for adults. The replacement treatments last occur for 1 to 3 months or upon the resolution of all clinical signs and symptoms. [technically would have to add studies to support]
Goals of Therapy: The goal of therapy is to replenish Vitamin C levels and educate patients on maintaining their levels in the future. Vitamin C deficiency develops among individuals who have inadequate consumption of vitamin C–rich foods or are affected by malabsorption or other chronic medical conditions. Patients should be educated about the significance of a nutritious diet abundant in fruits and vegetables (1).
The recommended daily vitamin C intake varies based on age, sex, pregnancy, and lactation. The amount of vitamin C required for children is 15 to 75 mg, men 90 mg, women 75 mg, pregnant women 85 mg, and lactating women 120 mg. Smoking leads to a depletion of vitamin C levels, requiring smokers to consume an additional vitamin C of 35 mg/d. Some common sources of Vitamin C are below (1),
1/2 cup red pepper: 95 mg
1 medium orange: 70 mg
1/2 cup strawberries: 49 mg
1/2 cup Brussels sprouts: 48 mg
1 baked potato: 17 mg
Social Determinants and Care:
Several factors can contribute to an increased risk of vitamin C deficiency, some of which are listed below.
Alcohol use disorder: Individuals with alcohol use disorder consuming more than 80 g/d of ethanol may experience increased renal excretion of vitamin C and poor dietary habits.
Social isolation and dietary habits: Social isolation and a limited diet, often called a "tea and toast" diet, particularly common among older individuals and institutionalized patients, can contribute to a lack of vitamin C intake.
Limited access to fruits and vegetables: Inability to obtain or afford a diverse range of fruits and vegetables can also elevate the risk of vitamin C deficiency.
Smoking: Smoking tobacco can diminish vitamin C levels in the body due to increased oxidative stress.
Developmental disabilities and mental illness: Conditions affecting food preferences, often seen in developmental disabilities and mental illness, can result in inadequate vitamin C consumption.
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