vitamin A deficiency (hyporetinemia)

Etiology

• dietary deficiency
• disorders interfering with absorption of vitamin A
  • celiac disease
  • ulcerative colitis
  • cystic fibrosis
  • liver disease
  • intestinal bypass surgery (bariatric surgery)
• defects in vitamin A synthesis from beta-carotene

Genetics

• defects in BCMO1 associated with autosomal dominant hypercarotenemia & vitamin A deficiency

Clinical manifestations

• xerophthalmia (dry eyes)
• hyperkeratosis, keratomalacia
• night blindness
• xeroderma (dry skin)

Laboratory

• serum retinol < 0.20 ug/dL (0.2 mg/L)

Management

• severe deficiency:
• vitamin A 100,000 IU/day for 3 days
• followed by 50,000 IU daily for 2 weeks
• then 10,000-20,000 IU daily for 2 months

More general terms

• hypovitaminosis (vitamin deficiency)

Additional terms

• vitamin A

Database

• OMIM: https://mirror.omim.org/entry/115300