Handbook of Genetic Counseling/Vitamin C Deficiency

Vitamin C Deficiency

(Ascorbic Acid Deficiency, Scurvy)

General Information

• Vitamin C is reducing agent that is easily oxidized or destroyed by heat
• Deficiency can cause defects in collagen formation
• Adrenal glands and lenses have high concentrations of Vitamin C

Etiology

• Infants born with adequate stores of Vitamin C if mother's intake was good
  • Breast milk also provides adequate source of Vitamin C
  • Infants not breastfeeding or whose mothers are deficient require supplements
• Majority of cases occur from 6-12 months
• Febrile illnesses increase need for Vitamin C
  • Particularly infectious or diarrheal diseases
  • Iron deficiency, cold exposure, protein depletion, and smoking also increase need for intake of Vitamin C

Pathology

• Collagen formed during deficiency is low in hydroxyproline
  • Leads to hemorrhage, defective tooth dentin, and loosening of teeth
  • Endochondral bone formation ceases
  • Bones may become brittle and fracture easily
• Periosteum becomes loosened and hemorrhages in femur and tibia common
• Degeneration in skeletal muscles, cardiac hypertrophy, bone marrow depression, adrenal atrophy if severe.

Clinical Manifestations

• Begins with irritability, tachypnea, digestive disturbances, and loss of appetite
• General tenderness, especially in legs
  • Pain causes pseudoparalysis with legs in "frog position"
  • Swelling and hemorrhage along legs
• Face appears apprehensive, gums swollen
• Depression of sternum
• Petechiae in skin or mucous membranes
• Hematuria, melena, orbital, or subdural hemorrhages
• Anemia due to inability to utilize iron or impairment in folic acid metabolism
• Swollen joints

Roentgenographic Manifestations

• Usually basis of diagnosis of Vitamin C deficiency
• Changes in long bones especially at knee
  • Begin as simple atrophy
  • Zone of well calcified cartilage appears as thick, irregular white line around bone
  • Difficult to diagnose at this stage
• Subperiosteal hemorrhages at ends of bone may become more intense as deficiency becomes more severe

Diagnosis

• Based mainly on clinical findings and history of poor intake of Vitamin C
• Laboratory tests not very good index
• Can get estimate from amount of urinary excretion of Vitamin C after test does of ascorbic acid
  • Children with deficiency secrete less ascorbic acid than those without
  • Check concentrations 3-5 hours after administration of test dose

Differential Diagnosis

• Arthritis or acrodynia due to pain in limbs exacerbated by movement
• Rheumatic fever - rare in children under 2 years of age
• Suppurative arthritis and osteomyelitis
• Syphilis due to pseudoparalysis - usually occurs at earlier age and has other symptoms
• Polio - doesn't cause tenderness in limbs
• Henoch-Schonlein purpura, thrombocytopenic purpura, leukemia, meningococcemia, nephritis also may be considered

Prognosis

• Recovery rapid when treated correctly
  • Pain ceases within few days
  • May take months for subperiosteal hemorrhage to disappear
  • Body growth resumes quickly
• Unrecognized/untreated cases may lead to death
  • From malnutrition, exhaustion, intercurrent disease
  • Uncommonly have permanent deformity

Treatment

• Can be prevented by providing formula fed infants 25-50 mg ascorbic acid daily
  • Lactating mothers should have minimum intake of 80 mg per day
  • Children and adults need 50 mg per day
• Therapeutic dose of ascorbic acid is 100-200 mg daily

Reference

"Vitamin C (Ascorbic Acid) Deficiency." Textbook of Pediatrics (1979):225-228.

Notes

The information in this outline was last updated in 2002.