vitamin A
Summary
Vitamin A (retinol) is a fat-soluble vitamin essential for vision, epithelial cell differentiation, and immune function. Deficiency causes night blindness (nyctalopia), xerophthalmia, and increased infection susceptibility, while excess (often from supplements or isotretinoin) causes teratogenicity and pseudotumor cerebri.
Detail
Vitamin A exists in forms including retinol, retinal, and retinoic acid, and is derived from animal sources (preformed retinol) or plant carotenoids (provitamin A, e.g., beta-carotene). It is absorbed in the small intestine with dietary fat and stored in the liver (stellate cells). Retinal is a key component of rhodopsin in rod photoreceptors, essential for vision in low light; deficiency causes night blindness and can progress to xerophthalmia, Bitot spots, and corneal ulceration (keratomalacia), a leading cause of preventable blindness in developing countries. Retinoic acid acts as a ligand for nuclear retinoic acid receptors (RAR/RXR), regulating gene transcription important for epithelial cell differentiation, immune function, and mucus secretion; deficiency leads to squamous metaplasia (especially in respiratory and urinary epithelium), predisposing to infections and kidney stones. Vitamin A is also crucial for immune function, and deficiency increases susceptibility to measles and diarrheal disease, so WHO recommends supplementation in developing countries. Vitamin A toxicity (hypervitaminosis A) can occur with excessive supplementation and causes symptoms including alopecia, dry skin, hepatotoxicity, pseudotumor cerebri (headache, blurred vision, papilledema without mass lesion), and bone abnormalities. Vitamin A and its derivatives are highly teratogenic; retinoic acid derivatives like isotretinoin (used for severe acne) require strict pregnancy prevention programs due to risk of craniofacial, cardiac, and CNS malformations. All-trans retinoic acid (ATRA) is also used therapeutically as differentiation therapy in acute promyelocytic leukemia (APL, associated with PML-RARA fusion from t(15;17)), inducing terminal differentiation of the malignant promyelocytes.
Sources
- First Aid for the USMLE Step 1
- Harrison's Principles of Internal Medicine
- Robbins Basic Pathology
- Katzung's Basic and Clinical Pharmacology
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