VITAMINS, MINERALS and MISCELLENEOUS

Vitamins

Deficiency
Vitamin Function
disease
A Retinol Visual pigments Night blindness,
in the retina Xerophthalmia
Keratinization
β-carotene β-carotene is an of skin
antioxidant
D Calciferol Calcium Rickets,
regulation Osteomalacia
E Tocopherol Antioxidant Rare
k Phylloquinone Υ carboxylation of Haemorrhagic
glutamate in: disease
Blood clotting
Menaquinone Bone matrix
B1 Thiamine Coen-zyme in Beriberi Erythrocyte
Oxidative Wernicke- Trans-ketolase
decarboxylation & Korsakoff Activation
in Trans-ketolase syndrome
rxns
B2 Ribo-flavin In redox reactions Cheilosis, Activation of
as FAD and FMN Seborrheic Erythrocyte
dermatitis
Glutathione
Reductase by
FAD added in
vitro

Niacin Nicotinic acid, In redox reactions Pellagra

as NAD & NADP
B6 Pyridoxine, Transamination Erythrocyte
pyridoxal and Transaminase
pyridoxamine Decarboxylation

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 Deficiency
Vitamin Function
disease
Pantothenic Co A Burning foot
acid syndrome
Folic acid Single C transfer Megaloblastic
anemia
B12 Cobalamin Single C transfer Pernicious
& Metabolism of anemia
Folic acid
H Biotin Carboxylation
reactions
C Ascorbic acid Coenzyme in Scurvy
Hydroxylation of
Proline and Lysine
in collagen
synthesis
Antioxidant
Absorption of Iron

Thiamine Diphosphate as Coenzyme

In 3 multienzyme complexes for oxidative decarboxylation reactions:

❖ Pyruvate dehydrogenase→ in link reaction

❖ α-ketoglutarate dehydrogenase→ in TCA cycle

❖ Branched-chain keto-acid dehydrogenase→ metabolism of leucine, isoleucine, and valine

&

❖ Coenzyme for Transketolase→ in HMP shunt pathway

❖ In Thiamine deficiency

❖ ↓ Blood thiamine

❖ ↑ Pyruvate

❖ ↑ Alpha ketoglutarate

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❖ ↑ Lactate

❖ ↓ Erythrocyte transketolase activity → Earliest manifestation

Vitamin K

Required for γ-carboxylation of glutamate residues:

❖ Factors II (Prothrombin ) VII, IX, and X, and proteins C and S

❖ Osteocalcin

❖ Matrix Gla protein

TIMETHYLAMINURIA (TMAU)/FISH ORDER SYNDROME/FISH MALODOR SYNDROME

❖ A rare metabolic disorder

❖ Defect in the production of flavin-containing monooxygenase 3 (FMO3)

❖ Trimethylamine ------→ Trimethylamine oxide (TMAO)

❖ ↑Trimethylamine in sweat, urine, and breath

❖ Strong fishy odour

NIACIN TOXICITY

❖ Flushing

❖ Liver toxicity

❖ Hyperurecemia

❖ Glucose intolerance

❖ Macular edema & macular cyst

❖ For practical purposes vitamin B12 → found only in foods of animal origin

❖ No plant sources of this vitamin

GLYCOGEN PHOSPHORYLASE

❖ Coenzyme ----→ pyridoxal phosphate

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❖ Reactive group of PLP

❖ In Transaminase ---→ Aldehyde group

❖ In Glycogen phosphorylase -→Phosphate group

BIOTIN

❖ Affinity of Avidin to Biotin > Affinity of Antigen-Antibody

❖ Avidin-Biotin system is utilized for

➢ Detection of pathogens by ELISA

➢ Biotin labelling of DNA

BIOTIN-DEPENDENT CARBOXYLATION REACTION

❖ Acetyl CoA carboxylase

❖ Pyruvate Carboxylase

❖ Propionyl CoA Carboxylase

BIOTIN-INDEPENDENT CARBOXYLATION REACTION

❖ Carbamoyl phosphate synthetase

❖ C6 in purine ring

❖ Malic enzyme

Vitamin D synthesis

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Dicoumarol

❖ Competitive inhibitor of vitamin K

❖ Used in-DVT and pulmonary embolism

❖ Monitored—due to risk of hemorrhage

❖ Monitored—By PT

Pyridoxine

❖ Pyridoxine-dependent seizure (PDS) is a recognized cause of intractable seizures in

neonates

❖ Diagnosis → Made by clinical and electrographic response to intravenous pyridoxine

MINERAL METABOLISM

Types of Collagen and their Distribution

I Bone, Tendon, Skin

II Cartilage, vitreous humor

III Skin, lung, vascular system

IV Basement membranes

VII Dermal-epidermal junction

XIII Neuromuscular junctions

XXV Brain

XXVI Testis, ovary

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Covalent Cross Links

❖ Within triple helical units

❖ Between triple helical units

❖ Enzyme defect in Menke's disease → Lysyl oxidase

❖ For cross bridging Lysyl oxidase uses → Copper

❖ Total Iron Deficit

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 ❖ Wt {kg} x (Target Hb – Actual Hb) {g/l} x 2.4 + Iron stores {mg}

❖ Iron for Iron stores → 500 mg if W > 35kg

15 mg/kg if W < 35 kg

MISCELLANEOUS

Exosomes

❖ Vesicles with lipid bilayer

❖ Deliver a distinct payload
❖ Used in therapeutic delivery systems

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Bilirubin metabolism and Phototherapy

Phototherapy → blue light (440 nm)

Isomerize insoluble bilirubin to soluble isomers

Excreted through urine without conjugation

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Hayflick limit →Cell division stops after 50 divisions

❑ ❑ ❑

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