Vitamins Disorders

Function Deficiency Excess

Fat Soluble Vitamins
1- Antioxidant 3 Eyes : Acute toxicity
2- Constituent of visual pigments (retinal) 1- Night blindness (nyctalopia) 1- Nausea, vomiting, vertigo 2- Blurred vision.
3- Essential for normal differentiation of epithelial cells into 2- Corneal degeneration (keratomalacia) Chronic toxicity
Vitamin A (retinol) specialized tissue (pancreatic cells, mucus-secreting cells) 3- Bitot spots on conjunctiva 1- Alopecia, 2- Arthralgias 3- Pseudotumor cerebri.
Found in liver and leafy vegetables
4- Prevents squamous metaplasia 4- Dry skin (e.g., scaliness) 5- Hepatic toxicity and enlargement
Immunity: Immunosuppression 6- Teratogenic (cleft palate, cardiac abnormalities),
5- Used to treat: Measles & AML subtype M3. pregnancy test and reliable contraception are required
1- Antioxidant SCurvy : to a Collagen synthesis defect
2- Facilitates iron absorption by reducing it to Fe2+ state. 1- Nausea, vomiting, diarrhea, fatigue
1- Swollen gums
- Ancillary treatment for methemoglobinemia by reducing 2- Calcium oxalate nephrolithiasis
Vitamin C (ascorbic acid) 2- Anemia
Fe3+ to Fe2+. 3- Bruising 4- petechiae, 5-hemarthrosis 3- risk of iron toxicity in predisposed individuals
Found in fruits and vegetables. (e.g., those with transfusions, hereditary
3- Necessary for hydroxylation of proline and lysine in 6- Perifollicular & subperiosteal hemorrhages
collagen synthesis. hemochromatosis).
7- Poor wound healing, 8-
4- Necessary for dopamine -hydroxylase, which converts
dopamine to NE. Immunity: Weakened immune response.
Vitamin D In children : Rickets (bone pain and deformity) Seen in granulomatous disease ( activation of vitamin D
1- Intestinal absorption of calcium and phosphate.
D2 = ergocalciferol ingested from plants. In adults: Osteomalacia (bone pain & muscle weakness) by epithelioid macrophages ).
D3 = cholecalciferol consumed in milk, 2- bone mineralization. + hypocalcemic tetany. 1- Hypercalcemia / Hypercalciuria
formed in sun-exposed skin (stratum basale).
25-OH D3 = storage form.
Vit. D. Deficiency is exacerbated by : 2- Loss of appetite
1,25-(OH)2 D3 (calcitriol) = active form. low sun exposure, pigmented skin, prematurity. 3- Stupor
1- Hemolytic anemia 2- Acanthocytosis
1- Antioxidant : 3- Muscle weakness
Vitamin E (protects RBCs and membranes from free radical damage). 4- Posterior column and spinocerebellar tract demyelination :
(tocopherol/tocotrienol) 2- Can enhance anticoagulant effects of warfarin. - Neurologic presentation may appear similar to vitamin B12
deficiency, but without: megaloblastic anemia, hypersegmented
neutrophils, or serum methylmalonic acid levels.
- Cofactor for the -carboxylation of glutamic acid residues on 1- Neonatal hemorrhage with PT and aPTT
Vitamin K various proteins required for blood clotting. BUT normal bleeding time
(phytomenadione, - Synthesized by intestinal flora. (neonates have sterile intestines unable to synthesize vit. K).
phylloquinone, phytonadione) K is for Koagulation. neonates are given vitamin K injection at birth to
Necessary for the maturation of 1- Clotting factors II, VII, IX, X prevent hemorrhagic disease of the newborn.
Warfarin vitamin K antagonist. 2- Proteins C and S. -- Also occur after prolonged use of broad-spectrum antibiotics

Water Soluble Vitamins

Thiamine PyroPhosphate (TPP), a cofactor for several To determine thiamine deficency is to do TRANSKETOLASE ASSAY
Vitamin B1 (thiamine) dehydrogenase enzyme reactions: Think ATP Wernicke-Korsakoff syndrome: Dry beriberi :
1- -ketoglutarate dehydrogenase (TCA cycle) Damage to 1- Medial dorsal nucleus of thalamus 1- Polyneuritis: Symmetrical peripheral neuropathy
2- Transketolase (HMP shunt) 2- Mammillary bodies. with sensory & motor impairment
Wernicke-Korsakoff syndrome & Beriberi
Seen in : 3- Pyruvate dehydrogenase (links glycolysis to TCA cycle) Classic triad: 2- Symmetrical muscle wasting.
1- Malnutrition 4- Branched-chain ketoacid dehydrogenase Wernicke: 1- Cerebellar damage : Ataxia
2- Alcoholism (2ry to malnutrition and 2- Ophthalmoplegia Wet beriberi :
malabsorption) Most common
Deficiency:
Korsakoff: 3- psychiatric symptoms: Confusion + 1- Neuropathy
Impaired glucose breakdown ATP depletion worsened by
Diagnosis made by : 1- Confabulation : Inventing something to justify wrong as true 2- High-output cardiac failure
glucose infusion; highly aerobic tissues (e.g., brain, heart) are
in RBC Transketolase activity following (because of destruction of mamillary body) (dilated cardiomyopathy),
affected first.
vitamin B1 administration. 2- Personality change 3- Edema.
3- Memory loss (permanent)
Deficiency of B2.
Vitamin B2 (riboflavin) Component of flavins FAD and FMN, used as cofactors in redox
reactions, e.g., succinate dehydrogenase reaction in TCA cycle. Cheilosis (inflammation of lips, scaling and fissures at the corners of the mouth),
FAD and FMN are derived from riboFlavin glossitis / Pharyngitis /edema & erythema of mouth / megenda tongue
(B2 2 ATP). Corneal vascularization. / photophobia/ conjunctivitis Seborrhic dermatitis
Vitamin B3 (niacin) - Constituent of NAD+, NADP+ (used in redox reactions) 1- Glossitis (beefy tongue)
- Derived from tryptophan. 2- Severe deficiency leads to Pellagra : of B3 1- Facial flushing (induced by prostaglandin, not histamine;
NAD derived from Niacin (B3 3 ATP).
- Synthesis requires vitamins B2 and B6. Diarrhea, can avoid by taking aspirin with niacin)
- Used to treat dyslipidemia : Dementia (also hallucinations), 2- Hyperglycemia
Causes of severe deficiency : 1- lowers VLDL Dermatitis : 3- hyperuricemia.
1- Hartnup disease ( tryptophan 2- raises levels of HDL. a- C3/C4 dermatome circumferential
absorption) necklace]
2- Malignant carcinoid syndrome b- Hyperpigmentation & thickened
( tryptophan metabolism) skin of sun-exposed limbs
3- Isoniazid ( vitamin B6). c- Rash is burning.
4- Malabsorption (Ulverative colitis)
- Essential component of : 1- Alopecia 2- Adrenal insufficiency.
Vitamin B5 (pantothenic acid) 1- coenzyme A (CoA, a cofactor for acyl transfers) 3- Dermatitis 4- Enteritis,
B5 pento acid. 2- Fatty acid synthase.
- Converted to pyridoxal phosphate (PLP), a cofactor used in : 1- Hyperirritability
1- Transamination (e.g., ALT and AST), 2- Convulsions
2- Decarboxylation reactions,
3- Peripheral neuropathy :
Vitamin B6 (pyridoxine) 3- Glycogen phosphorylase.
- Deficiency inducible by isoniazid & OCP
4- Synthesis of :
- Cystathionine, Heme, Niacin, Histamine, 4- Sideroblastic anemias
- Neurotransmitters including serotonin, epinephrine, - due to impaired hemoglobin synthesis & iron excess.
norepinephrine (NE), dopamine, and GABA.
- Cofactor for carboxylation enzymes (which add alpha 1-carbon - Relatively rare.
group): - Caused by: 1- Antibiotic use
* Pyruvate carboxylase: pyruvate (3C) oxaloacetate (4C) 2- Excessive ingestion of raw egg whites.
Vitamin B7 (biotin)
* Acetyl-CoA carboxylase: acetyl-CoA (2C) malonyl-CoA (3C) ..1- Alopecia 2- Dermatitis 3- Enteritis
* Propionyl-CoA carboxylase: propionyl-CoA (3C) 4- Fasting hypoglycemia 5- Bowel inflammation
methylmalonyl-CoA (4C) 6- Muscle pain
Vitamin B9 (folate) 1- Macrocytic, megaloblastic anemia
Most common vitamin deficiency in U.S - Converted to tetrahydrofolic acid (THF), a coenzyme for :
2- Hypersegmented polymorphonuclear cells (PMNs)
1-carbon transfer/methylation reactions.
Deficiency can be caused by several drugs : 3- Glossitis
1- Phenytoin - Important for synthesis of nitrogenous bases in DNA & RNA
NO neurologic symptoms (as opposed to vitamin B12 deficiency).
2- Sulfonamides - Found in leafy green vegetables.
3- Methotrexate - Absorbed in jejunum. Labs:
Can be seen in : 1- Homocysteine
1- Alcoholism
- Small reserve pool stored primarily in the liver.
2- Normal methylmalonic acid
2- Pregnancy Neural tube defects
Cofactor for : 1- Macrocytic, megaloblastic anemia
1- Homocysteine methyltransferase 2- Hypersegmented PMNCs
Vitamin B12 (cobalamin) (transfers CH3 groups as methylcobalamin) 3- Neurological Manifestation :
2- Methylmalonyl-CoA mutase A) Paresthesias
- Deficiency is usually caused by : B) Subacute combined degeneration
1- Insufficient intake (e.g., veganism) - Found in animal products Degeneration of :
2- Malabsorption : - Synthesized only by microorganisms - Dorsal columns
- Sprue - Lateral corticospinal tracts
- enteritis - Absorbed in terminal ileum
- Diphyllobothrium latum
- Spinocerebellar tracts
- Very large reserve pool (several years) stored primarily in liver.
3- Lack of intrinsic factor : due to abnormal myelin.
- pernicious anemia: Labs:
Prolonged deficiency irreversible nerve damage
"Anti-intrinsic factor antibodies" 1- Homocysteine
diagnostic for pernicious anemia. 2- methylmalonic acid
- gastric bypass surgery
4- absence of terminal ileum:
- Crohn disease