# 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.