bananas's version from 2015-07-15 18:37


Question Answer
Vitamin ARetinoic acid
B5Pantothenic acid
Vitamin CAscorbic acid
Vitamin D2Ergocalciferol (from plants)
Vitamin D3Cholcalciferol (from milk and sun)
Active Vitamin DCalcitriol
Vitamin EAlpha-Tocopherol
Vitamin KPhytomenadione, Phyloquinone, Phytonadione


Question Answer
Retinoic acid (A) deficiencyXeropthalmia (no tears)
Night blindness
Keratomelicia (wrinkled clouded cornea)
Thiamine deficiencyBeriberi
- Dry: Partial paralysis
- Wet: CV (Increase HR, Vasodilation)
- Infantile: dyspnea + cyanosis + HF

Wernicke-Korsakoff (alcoholics!!)
- Occulomotor dysfunction (Nystagmus, Weak muscles)
- Ataxia
- Mental status change
- Memory loss (permanent damage)
Lesion to the mamillary bodies?Thiamine (B1) deficiency most commonly due to alcoholism
Riboflavin (B2) deficiencyStomatitis (sore throat, Red tongue)
Niacin (B3) deficiencyPellagra (3D's: Diarrhea, Dermatitis, Dementia)
Pantothenic acid (B5) deficiencyChronic paresthesia (pins and needles)
"Burning feet": Parasthesias and dysthesias
Pyridoxine (B6) deficiencySeborrhoic dermatitis
Sideroblastic anemia
Atrophic glossitis (ulcers)
Neuro (somnolent, confused, neuropathy)
Biotin (B7) deficiencyHair loss
Folate (B9) deficiencyMegaloblastic anemia: hypersegmented neutrophils!
Neural tube defects
Anorexia/weight loss
Cobalamin (B12) deficiencyMegaloblastic anemia
Axonal degeneration (Myelin vacuolization of DCML, LCST, and peripheral nerves)
Ascorbic acid (C) deficiencybleeding, spongy gums, loose teeth, skin spots, malaise, corkscrew hairs
Cholecalciferol (D) deficiencyRicketts/Osteomalacia (Bone pain, Weak bones, Hypocalcemia)
Vitamin E deficiencyNeuromuscular (Degeneration of DCML and SCT, +Babinski)
Hemolytic anemia
Vitamin K deficiencyClotting disorder (activates CF II, VII, IX, X, protein C+s,)
[high PT]
Retinoic acid (A) overloadPseudotumor cerebri (Idiopathic increased ICP, usually fat girls)
Hepatic toxicity/enlargement
Dry skin
Retinoic acid (A) as a TeratogenSpontaneous abortion
Craniofacial malformations
CNS abnormalities
Heart abnormalities
HomocysteinuriaB6 or B12 deficiency
How does B12 deficiency cause Homocysteinuria?Cofactor for Homocysteine → Methionine.
How does B6 (pyridoxine) deficiency cause Homocysteinuria?(MC) Cofactor for conversion of Homocysteine →Cystathionine → Cysteine
Lead poisoningColicky pain
Blue pigment
Wrist/foot drop
Microcytic anemia


Question Answer
Takes years to develop deficiencyCobalamin (B12). Body has stores.
Takes about 6 months to develop deficiencyVitamin A. Liver stores vitamin A.
Takes 3-4 months to develop deficiencyVitamin D. Fat stores D.
Produced by bacteria in large intestineVitamin K (rarely deficient from dietary intake
Deficiency happens with peeingWater soluble vitamines
Precursor of NAD+Nicotinic acid (B3)
Source of Niacin (B3)Diet: Grains, veggies, fuits, meat. Synthesized from Tryptophan!
Precursor to Vitamin ACarotene
Precursor to Niacin (B3)Tryptophan
Causes of B12 deficiencyDefective absorption in the Ileum:
- Achlorhydria: Gastric atrophy or gastrectomy
- Ileal disease: IBS, Ileal resection
Bacterial overgrowth
Causes of Iron deficiencyIncreased demand
Blood loss
Insufficient intake
Sources of FolateFruits and Veggies!
Causes of Folate deficiencyInadequate intake
Decreased absorption
Increased demand
How do you replace B12?Parenteral because it usually happens due to defective absorption (Oral supplementation won't work)
Which drug causes Pyridoxine (B6) deficiency?Isoniazid: similar structure to B6
- competes with B6 and increases urinary excretion which can cause deficiency
Vitamin A is used for recovery from [?]Measles!!!
Faster recovery from pneumonia and diarrhea
Dilated cardiomyopathy, edema and increasedBeriberi, due to thiamine deficiency! (B1)
VegetariansB12 deficiency
How do you diagnose Thiamine deficiency?Erythrocyte transketolase activity
Biotin is a substrate for which reactionpyruvate>>oxaloacetate
Which vitamins are cofactors for Pyruvate dehydrogenase?Thiamine B1
Pantothenic acid B5 (Coenzyme A)
Riboflavin B2 (FAD)
Niacin B3 (NAD+)
Which vitamin is required by transaminases?B6: Pyridoxal phosphate
What does vitamin C do?1. Collagen synthesis. Hydroxylation and amidation of Proline and Lysine
2. Dopamine beta hydroxylase: DA →NE
3. Antioxidant
4. Iron absorption
What does vitamin K do?Carboxylates liver enzymes glutamyl residues into gamma-carboxyglutamates.
Clotting factors! II, VII, IX and X and protein C and S
What does Pantathoic acid do?Active as coenzyme A, a cofactor for TCA
- Synthesis of vitamins (A and D), cholesterol, Steroids, heme, FA's and aa's
Supplemented in infants?Vitamin K (at birth)
Vitamin D (exclusively breast fed)
AlcoholicsFolate and Thiamine!


Question Answer
Vitamin A is aAntioxidant
B1 is a cofactor for1. TCA cycle:
- Pyruvate Dehydrogenase
- Alpha-ketoglutarate Dehydrogenase
2. HMP Shunt: Transketolase
3. Branch aa breakdown (I, L, V): alpha-Ketoacid Dehydrogenase
B2 is a cofactor forTCA: Succinate dehydrogenase
- Make FADH2
B2 is a component ofFAD and FMN
- TCA: Succinate > Fumarate
B3 is a component ofNAD
B3 is derived fromTryptophan
B6 is a cofactor for1. Transamination: ALT and AST
2. Decarboxylase
3. Glycogen phosphorylase (McArdle's)
You need B6 to make- Cystathionine
- Heme
- Niacin
- Histamine
- NT's: Dopamine, NE, Epi, 5HT, GABA
B7 (Biotin) is a cofactor forCarboxylation
- Gluconeogenesis: Pyruvate carboxylase (Pyruvate to OAA)
- FA synthesis: Acetyl CoA > Malonyl CoA
B12 makes1. Methionine (from homocysteine)
2. Succinyl CoA (from methylmalonyl CoA)


Question Answer
Carries TG's to peripheral tissue
Delivers Cholesterol to liver
TG's from liver → Peripheral tissueVLDL
TG's and Cholesterol from circulation → LiverIDL
Cholesterol from LIver → Peripheral tissueLDL
How does LDL cause atheromas?Oxidized LDL deposits
Derived from IPL via hepatic lipaseLDL
Cholesterol from periphery → LiverHDL
Activates LCATApoA-1: Allows nascend HDL to take up cholesterol
Mediates chylomicron secretionApoB-48: Packages chylomicrons into lymph and circulatory system
Mediates VLDL secretionApoB-100: Puts VLDL from liver into circulation
CoFactor for Lipoprotein Lipase (LPL)ApoC-II: Removes FFA's from VLDL to make IDL
Mediates uptake of extra remnant particlesApoE


Question Answer
Steatorrhea + Acanthocytosis + AtaxiaAbetalipoproteinemia
Which lipoproteins are deficient in Abetaliporpoteinemia?ApoB-48 and ApoB-100: ↓VLDL synthesis and ↓Chylomicron synthesis
Treatment for abetalipoproteinemia?Vitamin E
MI before 20Familial hypercholesterolemia (AD)
Achilles tendon xanthomasFamilial hypercholesterolemia (AD)
What is the problem in familial hypercholesterolemia?Absent/defective LDL-receptor: Can't take up LDL in liver
Pancreatitis and Xanthomas but no risk for atherosclerosis?Hyperchylomicronemia (AR)
What went wrong in Hyperchylomicronemia?Lipoprotein lipase deficieny or ApoC-II: Can't removes FFA's from VLDL to make IDL
PancreatitisHypertriglyceridemia (AD)
What went wrong with Hypertriglyceridemia?Liver makes too much VLDL
Weakness, hypotonia and hypoglycemiaCarnitine deficiency
What went wrong in Carnitine deficiency?Carnitine transferase (Carnitine palmitoyl transferase):
Can't transport long chain fatty acids into mitochondria for breakdown

Amino Acids

Question Answer
What are the essential amino aids?AA's you need to eat: PVT TIM HaLL
What are the acidic aa'sAspartate and Glutamate (-)
What are the Basic aa'sLysine, Arginine, Histidine (+)
Phenylalanine is the precursor ofTyrosine → Dopa → Dopamine → NE → Epi
Tyrosine is the precursor ofThyroxine (aka thyroid hormone!)
→ Dopa → Dopamine → NE → Epi
Dopa is the precursor ofMelanin and Dopamine
Carbidopa targets which enzyme?DOPA decarboxylase: Dopa → Dopamine
Tryptophan is the precursor ofNiacin and Serotonin
Niacin comes fromTryptophan
Serotonin comes fromTryptophan
Niacin is the precursor ofNAD+/NADP+
Serotonin is the precursor ofMelatonin
Histidine is the precursor ofHistamine (+B6)
Glycine is the precursor ofPorphyrin → Heme
Heme is derived from?Glycine → Porphyrin (+B6)
Glutamate is the precursor ofGABA and Glutathione
GABA comes fromGlutamate (+B6)
Glutathione comes fromGlutamate
Arginine is the precursor ofCreatinine
Which vitamin is super essential in amino acid synthesis?B6 (Pyridoxine)

Amino acid deficiencies

Question Answer
Defective enzyme in PKUPhenyalanine hydroxylase or Tetrahydrobiopterin (BH4)
Aromatic amino acid metabolism
What builds up in PKU?Phenylalanine
Musty smellPKU
Fair skin and intellectual disability and mousy odorPKU
Treatment of PKUExogenous Tyrosine
Diet: no eggs or dairy, meat, beans or nuts
Screening for PKU?Phenylketones 2-3 days after birth
- Phenylacetate
- Phenyllactate
- Phenylpyruvate
Maternal PKU can causeMicrocephaly
Heart defects
Intellectual disability
Defective enzyme in AlkaptonuriaHomogenestic acid oxidase
What builds up in Alkaptonuria?Homogentisic acid
Black urineAlkaptonuria
Brown scleraAlkaptonuria
Defective enzyme in AlbinismTyrosinase
What product is deficient in AlbinismMelanin
Increased risk of skin cancerAlbinism
Defective enzyme in HomocystinuriaCystathionine synthase or its affinity for B6
Homocysteine methyltransferase
What builds up in homocystinuria?Homocysteine!
Marfanoid (tall, kyphosis) with Lens dislocation downwardHomocystinuria
Defect in CystinuriaRenal PCT has a defective aa transporter
What builds up in Cystinuria?Cysteine
Cystine stonesCystinuria
Defective enzyme in Maple syrup urine diseaseAlpha ketoacid dehydrogenase
What builds up in Maple syrup urine disease?alpha ketoacids
Sweet smelling urineMaple syrup urine
Which amino acids are affected in Maple syrup disease?Isoleucine Leucine Valine
[I Love Vermont maple syrup]
Defect in HartnupRenal transporter: decreased tryptophan
Pellagra: Diarrhea, Dementia and DermatitisHartnup

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