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Biochem Diseases- (my version) > Heme Synthesis > Flashcards

Heme Synthesis Flashcards

1
Q

Hypochromic Microcytic Anemia

Cause:
Result:
Sx:
Tx: 
Dx:
Keywords:
A

Cause: Deficiency in Iron (Ferrochelatase), Copper, Pyridoxine (ALA Synthase); Lead Poisoning; Any enzyme defect in the Heme Synthesis pathway
Result: RBCs are small and lack color due to poor hemoglobin content

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2
Q

Lead Poisoning

A

Cause: Lead inhibits 2 steps in heme synthesis:
•ALA Dehydrase
•Ferrochelatase
Result: •Accumulation of ALA or Protoporphyrin IX (depending on which enzyme is affected)
•Deficiency in Heme
Sx: Microcytic Hypochromic Anemia

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3
Q

Acute Intermittent Porphyria

A

Cause: Deficiency in Porphobilinogen Deaminase/Hydroxymethylbilane Synthase (Hepatic disorder)
Result: Accumulation of ALA, and PBG…oxidized by light
Sx: GI and neuropsychiatric symptoms, PBG and ALA in urine > Dark urine upon standing, Peripheral neuropathy (motor neurons); NO PHOTOSENSITIVITY!
Tx: Symptomatic: Hemin; inhibits ALA Synthase> no buildup of PBG or ALA; NO BARBITUATES > activates CytP450 enzymes

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4
Q

Congentinal Erythropoietic Porphyria

A

Cause: mutation > lack in Uroporphyrinogen III Synthase
Result: Accum of Hydroxymethylbilane > Uroporphyrinogen I > urine > oxidized spontaneously (without light) to Uroporphyrin I
Sx: Congenital disorder (PINK diaper!), Dark urine on voiding (uroporphyrin) and in skin & teeth, Photosensitivity
Tx: No sun, Vit C & E against oxidants, transfusions, bone marrow transplants
Dx: reddish brown urine, inc uroporphyrin I in urine & RBC, normal ALA and PBG, high uroporphyrin in RBCs.

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5
Q

Porphyria Cutanea Tarda

A

Cause: Inhibitor of Uroporphyrinogen III Decarboxylase synthesized in the Liver (autosomal dominant)
Result: Uroporphyrinogen III (accum)>spont. oxidized to Uroporphyrin III (depend on Fe2+ accum in liver
Sx: (4th-5th decade), chronic, Blistering skin lesions, Hypertrichosis, Hyperpigmentation, Photosensitivity, Dark urine on voiding, Uroporphyrin III in the urine, Normal levels of PBG
Tx: Symptomatic: Phlebotomies and/or blood transfusion to reduce hepatic iron load (anaemia)
Dx: reddish/brown urine (Uroporphyrin III); normal PBG

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6
Q

Kernicterus

A

Path: high Bilirubin in blood/tissues
Resulting defect: deposition in brain and tissues or excreted
Sx: neurological/retardation

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7
Q

Pre-hepatic Jaundice

A

Path: unable to bring bilirubin into liver due to defect/saturation of transportation mech OR too much bilirubin [ Think hemolysis = anemia]
Resulting defect: Conjugated/insoluble bilirubin in brain/tissues
Sx: Neurological, yellow eyes, high bilirubin in plasma, high urobilin in urine/sreicobilin in feces, no bilirubin in urine, N AST/ALT and no liver damage
Dx: Anemia/low Hb + Sx above

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8
Q

Hepatic Jaundice

A

Path: Damaged hepatocytes/obstructed canaliculi > unconjugated bilirubin leaks to blood = could be hepatitis/hepatocellular carcinoma
Resulting defect: high bilirubin in plasma, but low in feces/urine
Sx/Dx: high AST/ALT due to liver damage + see result

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9
Q

Post-Hepatic Jaundice

A

Path: unable to excrete conjugated bile into GIT OR damage/obstruction of bile canaliculi due to a tumor
Resulting defect: high conjugated bilirubin in plasma/urine = dark/orange urine, low urobilin/stericobilin, high ALP marks obstruction when AST/ALT nl

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10
Q

Neonatal Physiological Jaundice

A

Path: premature liver/bilirubin-UGT + hemlysis due to hypoxia during birth
Resulting defect: high unconjugated bilirubin in plasma + nervous system (basal ganglia) = toxic encephalopathy > mental retardation + kernicterus
Tx: UV > makes bilirubin soluble w/o conjugation

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11
Q

Criger Najar Syndrome (I &II)

A

Path: Type I - lack of bilirubin-UGT (fatal); Type II - partial def (not fatal)
Resulting defect: inability to conjugatebilirubin > unconjugated hyperbilirubinemia
Sx: severe conjugated jaundice, fatal within 12-15 months
Tx: Type I - phototherapy (temporary), liver transplantation (perm); type II - barbituates (phenobarbital) > ER hypertrophy > enhances conjugation & release of bilirubin

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12
Q

Gilbert Syndrome

A

Path: mild def of bilirubin-UGT, usually undiagnosed bc 30% activity is enough, more in males
Resulting defect: fluctuating hyperbilirubinemia due to vriable hemolysis due to mental/physical stress
Tx: barbituates

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13
Q

Dubin Johnson Syndrome

A

Path: Decreases secretion of conjugated bilirubin into biliary tract - Autosomal recessive & benign
Resulting defect: Fluctuating conjugated hyperbilirubinemia causing jaundice

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14
Q

Rotor Syndrome

A

Path: Multiple defects in hepatocellular uptake and excretion of bile pigments, benign disorder
Resulting defect: Fluctuating conjugated hyperbilirubinemia causing jaundice

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15
Q

Haemophelia

A

Path: def of factor VII (A), IX (B), OR XI (C) ; X-linked
Resulting Defect: Inefficient clotting
Sx: Increased APTT, easy bruising & bleeding into joints and bleeding after trauma/surgery
Tx: transfusion of deficient clotting factors
Dx: bleeding time, platlet count, & prothrombin time, APTT nl; use ind factor assay for type of haemophelia; Ashkenazi Jews

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16
Q

Von Willenbrand Disease

A

Path: VWF factor def, qualitative and quantitative
Resulting defect: no platelet plug, instability of factor VIII
Sx (highly indicative of Dx): increased APTT and bleeding time; nl platelet count, PT, and factor VIII

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17
Q

Bernard Soulier Syndrome

A

Path: Qualitative OR quantitative defect; GP1b receptor defect
Resulting defect: Can’t bind VWF @ GP1b receptor > no plug/adhesion
Sx: nl VWF & factor VIII; increased bleedign time

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18
Q

Thrombasthenia of Glanzmann & Naegeli

A

Path: qualitative defect; GPIIb/IIa receptor defect V on platelet membrane
Resulting defect: Can’t bind fribrinogen @ GPIIa/IIb receptor > no platelet plug
Sx: inc bleeding time; nl platelet count, PT, and APTT

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19
Q

Carbon Tetrachloride (LFT)

A

Path: poison that causes liver cancer

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20
Q

Aflatoxin B1

A

Path: Mold toxin (Aspergillus Flavus); activated in liver by CYP 3A4 or CYP 1A2 or 2,3-epoxide
Effect: 2,3-epoxide forms adducts with guanine nucleotides > affect the p53 gebe > liver cancer (Sx:)
Cure: avoid moldy food

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21
Q

Paracetamol overdose

A

Path: XS paracetamol > turned into NABQI by CYP2E1 (enhanced by alcohol) > toxic: adducts with Sulphur side chains of proteins
Effect: Free radical > phospholipid peroxidations > hepatocellular membrane damage > cellular necrosis
Tx: N-Acetyl-Cysteine scavenges free radicals and enhances GLutathione-S-Transferase > which conjugates NABQI

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22
Q

Methanol Poisoning

A

Path: Methanol ingested > turned into formaldehyde by Alcohol Dehydrogenase > then into Formic Acid.
Effect: high formic acid > blindness & metabolic acidosis
Tx: Give Ethanol (higher affinity) > competes with Methanol for Alcohol Dehydrogenase

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23
Q

Ethylene Glycol Poisoning

A

Path: ingestion of Ethylene GLycol > turned into Glycoaldehyde by Alcohol Dehydrogenase in the liver > metabolized into Glycolate & Oxalate > interferes with liver enzymes > metabolic acidosis and hepatic enzyme problems

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24
Q

B12 Deficiency

A

Path: Dietary insufficiency (Vegans/Alcoholics), IF, or ileal disease (absorption)
Effect: Methylmalonyl-CoA acc > weird FA > demyelination, hyperhomocystinemia, def in SAM > hypomethylation > acc of odd chain FAs in neurons > demyelination
Sx: Pernicious anemia (Folate trap), high homocysteine > cardiac defects, Demyelination > tingling/numbness/irritability/MEGALOBLASTIC MADNESS
Tx: B12 + Folate
Dx: High Methylmalonic Acid in urine & in blood > B12 def or Methylmalonyl-CoA mutase def

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25
Q

Folic Acid Deficiency

A

Path: Diet (grean leafy veggies, folate trap, GI abs, high need (pregnancy), Folate antagonists (Methatrexate, antibiotics).
Effect: Neural tube defects for fetus, purine synthesis > megaloblastic anemia
Tx: supplements
Dx: Formiminoglutamate (FIGLU) excreted in urine; Histidine > FIGLU > Glutamate

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26
Q

Duchenne’s Muscular Dystrophy

A

Path: frameshift mutation on x-chromosome > Lack of dystrophin protein > sacrolemma breaks down > Ca2+ flux > myonecrosis
Sx: early 5-12y/o wheelcahir, muscle tissue > fibrofatty tissue, Cardiomyopathy/respiratory problems> heart failure
Tx: tracheostomy, orthopedic devices, gene therapy
Dx: high CK-MM, muscle biopsy, immunostaining absent in DMD

Gower’s Maneuver?

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27
Q

Becker’s Muscular Dystrophy

A

Path: point mutation > abnormal & def Dystrophin protein > sacrolemma breaks down
Sx: can walk beyond 15y/o & live to 40-50y/o
Tx: Tx: tracheostomy, orthopedic devices, gene therapy
Dx: high CK-MM, muscle biopsy, immunostaining low in BMD

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28
Q

Muscle Sclerosis

A

Path: Autoimmune on Oligodendrocytes > demyelination (CNS) > build up of plaques (Scleroses) > Poor nerve conduction
Note: characterized by relapse and prolapse

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29
Q

Alzeheimer’s Disease

A

path: longer Amyloid prot precursor for Beta-Amyloid peptid > neurofibrillary tangles + B-Amyloid plaques, Apo-E variant genetic risk, hypercalcemia > hyperphosphorylation of Tau > tangles
Effect: neurodegeneration, brain size reduction, elevated Ca2+
Sx: dementia + memory loss
Dx: only after death, CAT & MRI show reduced brain size

10-30% higher risk in Japanese and Caucasian over 75y/o

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30
Q

Prion Disease (transmissible Spongifor encephalopathies)

A

Path: PrPc –> PrPsc accelerated by congential defect (CJD) or exposure to PrPsc stimulus (Scrapie or Madcow).
• Identical primary and post-trans mod. But altered 2nd & 3rd structures
Effect: PrPsc screws other PrP > neurodegenetation

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31
Q

Creutzfelt-Jacob disease (Brain Atrophy)

A

Path: PrPc –> PrPsc accelerated by congential defect (CJD) or exposure to PrPsc stimulus (Scrapie or Madcow).
• Identical primary and post-trans mod. But altered 2nd & 3rd structures, transmitted by eating contaminated cow meat.

Effect: Degeneration of the cerebral cortex with spongiform vacuolar degeneration (hallmark) > neuronal loss

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32
Q

Vitamin A Deficiency

A

Path: abs + fat-free diets
Effect: mucus epi, night blindness, growth, reproduction, innate immunity

Sx: night blindness, Xeropthalmia (dryness of the conjunctiva and cornea, Bitot’s spots, Keratomalacia [corneal erosion]), recurrent pulmonary infections, weakened immunity

Tx: supplements

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33
Q

Vitamin A Toxicity

A

Path: hypervitaminosis, too much! (found high in polar bear liver), avoid esp during pregrnancy (teratogenic)
Sx: Increased intracranial pressure [psudotumour cerebri]: seizures, papillodema, headaches, nausea, vomiting)
•Dry pruritic skin & dry mucous membranes + weight loss
•Hepatomegaly >portal hypertension > cirrhosis

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34
Q

Rickets

A

Path: Deficiency of Vitamin D in children
•Fat malabsorption
•No sunlight

Effect: poor bone development

Sx: •Bow-leggedness
•Frontal Bossing
•Rachitic Rosary 
•Pigeon chest deformity
•Soft, Pliable bones"
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35
Q

Osteomalasia

A

Path: def of Vit D in adults

Effect: re-abs bone > weak bones

Sx: frequent fractures, pigeon chest + rachitic rosary but no soft bones

Tx: Supplements

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36
Q

Vitamin E Deficieny

A

path: Fat malabsorption, Fat-free diets (RARE)

Effect: low defense against ROS in lipid membranes

Sx: Hemolytic Anemia, Axonal degeneration, loss of deep tendon reflexes and problem with gait

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37
Q

Hemorrhagic Disease of Newborns

A

Pat: no gut flora > no Vit K made > def of Vit K up to 1 week

Effect: no clotting factors > Bleeding at various parts of the body including skin, umbilicus and viscera; [Intra-cranial bleeding (most serious)]

Tx: Routine intramuscular injections of Vitamin K

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38
Q

Vit K deficiency in Adults

A

Path: Malabsorption, loss of gut flora due to prolonged use of broad spectrum antibiotics or Warfarin, diffuse liver disease

Effect: Bleeding

Sx: Non-specific bleeding symptoms( hematouria, melena [stools], ecchymoses [easy bruising], gums)

Tx: supplements

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39
Q

Scurvy

A

Path: Vit C deficiency (diet and alcoholism)

Effect: Iron abs def, no defense against ROS, Defects in CT (cross linking collagen weak due to not adding hydroxyl groups to lysine and proline by lysyl hydroxylase, lysyl and prolyl oxidases)

Sx: spongy bleeding gums, loose teeth, fragile blood vessels > Pinpoint (parafollicular) hemorrhaging, joint bleeding, & easy bruising, and Impaired wound healing

Tx: Vit C supplements

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40
Q

Wernick-Korsakoff Encephalopathy

A

Path: Vitamin B1 (Thiamine) Deficiency > think alcoholics and poor diet

Effect: Some enzymes can't work:
•Branched-Chain alpha-Keto Acid Dehydrogenase
•alpha-Ketoglutarate Dehydrogenase
•Transketolase
•Pyruvate Dehydrogenase

Sx: Acute (reversible): mental retardation & delerium, Confabulation, Confusion, Opthalmoplesia w/ Nystagmus, amnesia, Ataxia

Chronic (irrevensible): Korsakoff Psychosis > anterograde amnesia

Tx: Acute: Supp

Dx: give TPP & measure RBC Transketolase activity

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41
Q

Beri-Beri Disease

A

Path: B1 def (refined foods like polished rice, white flour/sugar).

Effect: Some enzymes can't work:
•Branched-Chain alpha-Keto Acid Dehydrogenase
•alpha-Ketoglutarate Dehydrogenase
•Transketolase
•Pyruvate Dehydrogenase

Sx: Polyencephalopathy, cadiovascular symptoms.

Dx: give TPP & measure RBC Transketolase activity

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42
Q

B2 (Riboflavin) Deficiency

A

Path: diet def

Effect: FMN, FAD lack stops ETC rxns

Sx: Chelosis, glossitis, facial dermatitis

Tx: supp

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43
Q

Niacin (B3) Deficiency

A

Path: Alcoholism, chronic dis, & diet rich in corn (unusable niacin)

Effect: NAD+/NADP+ lack in redox rxns

Sx: Presents as Pellagra (4 D’s): Diahrrea, Dermatitis, Dementia , Death

Tx: supp

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44
Q

Vitamin B6 (PLP) Deficiency

A

Path: Diet, TB treatment isoniazid inactivated PLP

Effect: PLP needed for: 
•ALA Synthase (heme synthesis)
•Aminotransferases (AA metabolism)
•Decarboxylases (NT synthesis)
•Homocysteine -> Cysteine

Sx: Microcytic Hypochromic Anemia, Peripheral Neuropathy, Homocysteinuria -> Increased risk of cardiovascular disease, & Seizures

Tx: PLP supp along with Tb treatment

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45
Q

Copper deficiency

A

Path: Diet

Effect: Cu2+ Needed for: Lysyl Oxidase, Cytosolic Superoxide Dismutase, Dopamine B-Hydroxylase (along w/ Vit C), Cytochrome C Oxidase (IV), Tyrosinase

Sx: •Microcytic Anemia (cannot absorb and transport iron)
•Degradation of vascular tissue >easy bruising
•Defects in hair (keratin filaments)
•Peripheral neuropathy

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46
Q

Menke’s Syndrome

A

Path: X-Linked Disease (only male infants) > abnl copper immobilization from gut > Cu2+ deficiency

Effect: NS, CT & vasculature effects due to unstable collagen)

Sx: Kinky, wirey hair, fatal in infancy

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47
Q

Hereditary Haemochromatosis

A

Path: Mutation in the HFE gene > enterocyte can’t sense sytemic iron balance (common)

Effect: too much iron

Sx: Fe acc in liver/pancreas -> ROS acc -> Lipid peroxidation and DNA damage > digestive problems + diabetes, Cardiac dysfunction, Acute synovitis, Brown skin, high iron on and ferritin

Dx: Inc Transferrin & Ferritin

Tx: if caught in precirrhotic stage > do regular phlebotomy > normal life expectancy

48
Q

Iron (Fe2+) Deficiency

A

Path: defect in: Nutrition (meats) and absorption, Vitamin C, Copper, pH balance of Stomach

Risk for: Infants, Pregnant women and Blood donors.

Effect: Low Heme synthesis (ferrochelatase) > affects Cytochrome P450 enzymes, ETC complexes

Sx: Microcytic Hypochromic Anemia (weakness, fatigue, pallor, brittle nails etc.)
•Pica: appetite for soil

49
Q

Manganese

A

Path: Nutritional

Effect: Lack of activity in Mitochondrial Superoxide Dismutase AND Pyruvate Carboxylase

50
Q

Molybdenum

A

Path: Nutritional

Effect: lack of activity of Xanthine Oxidase

51
Q

Selenium

A

Path: Nutritional

Effect: Lack of activity of Glutathione peroxidase > Myopathy

52
Q

Kwashiorkar Disease (oedematous malnutrition)

A

Path: low protein (generally high carb) diet, hepatomegaly, Poor wound healing, loss of body hair
+ <60% normal body weight, scaly skin + dermatitis, distended abdomen

Tx: FLUID AND ELECTROLYTE BALANCE MUST BE RESTORED FIRST! then give (8:1 sugar:salt tea spoon/L of water plus oral K+, Zn++, Mg++, and vit and mineral supplements)

53
Q

Marasmus

A

Path: Protein Energy Malnutrition due to overall shitty diet: Breast fed + water gruels of various cereals (deficient in protein AND calories), 1-5 years

Sx: •NO OEDEMA but…Muscle wasting (low insulin), Stunted growth, Anemia, Proteolysis, Triceps skin fold <60-80% normal body weight, wrinkled skin, hair loss and emaciated appearance

Tx: FLUID AND ELECTROLYTE BALANCE MUST BE RESTORED FIRST! then give (8:1 sugar:salt tea spoon/L of water plus oral K+, Zn++, Mg++, and vit and mineral supplements)

54
Q

Marasmus

A

2

55
Q

Anorexia Nervosa

A

Path: Psychological issues > Low energy long time; self-induced vomiting or use of laxitives

Effect: BMI < 17.5

Sx: Nutritional deficiencies: hypo-minerals, Muscle wasting, Kidney stones and failure, constipations and bloating, Thin and brittle hair & nails, buising & dry skin

Endocrine system effects:
Low sex hormones; High cortisol; Low thyroid

CNS effects: cognitive and psy

Cardiovascular: heart and Hypotension.

56
Q

Bulimia Nervosa

A

Path: Binge eating (2000 Calories Daily) followed by Laxatives and Self-induced vomiting > weight loss

Sx:
•Weight loss
•Damage to gut lining and enamel of teeth + Electrolyte imbalance and dehydration due to vomiting

57
Q

Cachexia

A

Path: Loss of appetite due to chronic disease ( AIDS & Cancer)

Effect: Low appetite > malnutrition

Sx: Marasmus-like symptoms but + protein loss

  • Tumors metabolize glucose to Lactate > gluconeogenesis > high proteolysis
  • High cytokines > activates uncoupling proteins > thermogenesis
  • CACHEXIN (TNF-alpha): protein from tumors > inc BMR + loss of body protein
58
Q

HyperOsmolar Non-Ketotic coma (HONK)

A

Path: Diabetes (type I & II)

Effect: hyperglycaemia > high blood osmolarity, water moves from ICF > EFC.

Sx: Hyperglycaemia, dehydration, and uraemia (renal shutdown due to neuropathy) without ketosis, polyuria > hypovolaemia

Tx: IV insulin + electrolytes/fluids

59
Q

Fasting hypoglycemia

A

Eat more dummy!

60
Q

Reactive (post-prandial) Hypoglycemia

A

Path: Insulin spike after fatty fat fatty ate too much pasta

Dx: high insulin/high C-peptide

61
Q

Alcohol-Induced Hypoglycemia

A

Path: Alcohol increases NADH:NAD+ ratio therefore pathways reverse

Effect: No gluconeogenesis, No Beta-Oxidation, Ketogenesis (LOTS of Acetyl-CoA due to Acetic Acid -> Acetyl-CoA) still lower than in diabetes, Increased TAG Synthesis & Acc (DHAP -> G3P), Lactic Acidosis (Pyruvate -> Lactate)

Other Sx: hypoglycemia, Increase in VLDL (only until liver fails), Decrease HDL and other Anti-Oxidants

62
Q

Factitious Hypoglycemia

A

Path: Injected too much Insulin/over use of hypoglycaemic agents (sulphonylureas/insulin injections)

Effect: hypoglycemia

Dx: normal/low C-peptide + high insulin when symptomatic

63
Q

Hyperinsulinism

A

Path: benign pancreatic tumour involving giant iselts of langerhan’s

Effect: Too much insulin produced > hypoglycaemia; High C-peptide (characteristic)

Dx: Whipple’s triad: Adrenergic/neuroglycopenic symptoms, blood glucose <50mg/dL (2.6 mmol/L) when symptomatic, & improvement of symptoms after ingesting glucose

Tx: Surgery

64
Q

Hypoglycemia of Insulinoma

A

Path: Tumor of B-cells love make insulin long time > hypoglycemia

Dx: high insulin/high C-peptide

65
Q

Cystic Fibrosis

A

Path: AR mutation, 3 base pair deletion (Phenylalanine - position 508) in the long arm of chromosome 7; Defective CFTR ion transporter (ABC Transporter)

Effect: Lung Mucosa (blocked and bacteria grows) & intestinal Epi (Meconium Ileus in newborns):

Skin: (salty sweat; Na >70mM and/or genetics) = Dx

Pancreas: digest itself and > malabsorption

Reproductive: Azoospermia due to congenital bilateral absence of Vas Deferens

Tx: Pulmonary: Immunization against disease, Beta-Agonists to DILATE AIRWAYS, Mucolytic Agents such as Dornase Alfa, Antibiotics to treat infection

Intestinal: Modified diet (Vitamin A, K, E, D supplements), Pancreatic enzyme supplements, High caloric diet

66
Q

Sickle Cell Anemia

A

Path: Point mutation in the gene for B-Globin; position 6; Homozygous Recessive

Effect: Glutamate > Valine; > HbS hemoglobin formed (B-chain connection site > they clot together)

Sx: RBC’s rigid & clump together at low O2; Chronic pain, chronic hemolytic anemia and increased susceptibility to infections, ischemia

Sickling Crisis: XS removal of RBCs > anemia and pre-hepatic jaundice + SPLENOMEGALY!!
- XS Conjug. bilirubin exc > gall stones

Dx: Electrophoresis (bad RBC = less -ve)
- mutation > less MstII restriction site > FEWER FRAGMENTS in RFLP analysis

Tx: adequate hydration, analgesics, aggressive antibiotics for infections, O2 supply

67
Q

GLUT-1 Deficiency

A

Path: Low GLUT-1 transporter

Effect: low glucose concentration in CSF <0.4 = Dx

Sx: Siezures, developmental delay & complex motor disorder

Tx: High fat, low CHO diet elevating blood ketone bodies so the brain get used to using ketone bodies instead of glucose for E.

68
Q

Panic Attacks / Manic Depression

A

Excessive Serotonin > panic attacks

69
Q

Clinical Depression

A

Decreased Serotonin

Tx: give SSRI’s

70
Q

Parkinson’s Disease

A

Path: Decreased dopamine due to Decreased dopamine production in the Substantia Nigra

Tx: L-DOPA

71
Q

Schizophrenia

A

Excessive Dopamine

72
Q

Prion Diseases

A

Path: PrPc –> PrPsc reaction accelerated either due to congential defect (CJD) or exposure to PrPsc stimulus (Scrapie or Madcow)

Effect: Neurodegenerative diseases

73
Q

Ehlers-Danlos Syndrome

A 
Path: [diff Types] particular defects in processing enzymes or mutations in  sequence amino acids of alpha-collagen chain.
• Lysyl Hydroxylase (VI)
• Tenascin-X
• Procollagen N Proteinase
• COL1A1/1A2/3A1

Effect: Poor/deficient collagen production

Sx: Hyperextensible skin and joints, easy bruising, frequent dislocations

74
Q

Osteogenesis Imperfecta

A

Path: Type I (OI Tarda)
• Often misdiagnosed as child abuse
• Mutation of COL1A1
• Quantitative deficit - in Type I collagen

Type 2
• Mutation of COL1A1/1A2 gene
• Qualitative deficit - Glycine is replaced with a bulky AA

Effect: Type I > low Type I collagen; Type II > normal levels of defective Type I collagen > degraded via ubiquitination

Sx: Type I > Multiple rib fractures, Brittle bone, Blue/Grey tint to sclera, Retarded wound healing

Type II > Most infants die in utero or shortly after birthy due to pulmonary hypoplasia

75
Q

Marfan’s Syndrome

A

Path: Mutation of Fibrillin-1 gene

Effect: Changes to ECM scaffolding properties of limbs and loss of control of certain growth factors (TGF-beta)

Sx: Skeletal abnormalities, ocular changes, cardiovascular complications (most often aortic hemorrhage)

76
Q

Paget’s Disease

A

Path: Increased ALP Levels, overactivity of osteoclasts > followed by uncontrolled osteoblast activity

Effect: disorganized bone growth/resorption > Deformities in skull and forhead + enlargement of the orbital ridge (side of hip)

77
Q

Thalassaemia

A

Path: Mutation in either the alpha or beta subunit of haemoglobin

78
Q

Anemias:

A 
TYPES
Nutrional (B12), Hemorrhagic (bleeding), Aplastic (bone marrow destruction), Haemolytic

Effect: Lack of healthy red blood

Sx: Fatigue, shortness of breath, headaches, pale skin color

Tx: Blood transfusion (if serious enough)

79
Q

Multiple Sclerosis

A

Path: Viral infection > autoimmune response > demyelination

Effect: Slowing of nervous transmission and development of hardened plaques in multiple regions

Sx: Extreme motor deficit; eventual death

80
Q

Niemann-Pick Disease

A

Path: No sphingomyelinase > inability to recycle sphingomyelin

Effect: Sphingomyelin acc in the lysosomes; > enlarged liver/spleen, severe mental retardation, accelerated neurodegeneration and death.

81
Q

Respiratory Distress Syndrome

A

Path: Premature birth > decreased/insufficient production of surfactant

Effect: Decreased lung compliance + extreme diffculty breathing

Tx: Administration of corticosteroids > inc foetal surfactant production. Surfactant can also be delivered intra-tracheally post-delivery

Surfactant: = Dipalmitoyl Phosphotidylcholine

82
Q

Cholera Enterotoxin

A

Path: Constitutive activation of the alpha-subunit of the Gs protein via ribosylation (toxin inhibits GTPase)

Effect: Constant production of cAMP, stimulation of PKA and release of Ca2+ > lots of Cl- & water into gut

Sx: Severe diahorrea & fluid loss

83
Q

Pertussis Toxin (Whooping Cough)

A

Path: Toxin (Gram -ve) ribosylates Cys352 of Gprotein, preventing the binding of GTP

Effect: Paralysis of cillia prevents clearing of mucous from respiratory tract

Sx: Chronic infection and terrible cough characterized by a whooping sound

84
Q

Death Cap Mushroom Poisoning

A

Path: Inhibition of RNA Polymerase II in eukaryotes

Effect: Alpha-amanatin (toxin) forms a tight complex with RNA Poly II > stops DNA transcription

Sx: 4 phases of symptoms: Asymptomatic, Diahrrea & GI, Relief of symptoms, Hepatic & Renal failure; Urine test only effective within 48 Hours

Tx: Penicillin if caught early, liver transplant if caught late

85
Q

Cholelithiasis (Cholesterol Gall Stone Disease)

A

Path: imbalance of chol and bile salts in gallbladder > Precipitation of cholesterol

Causes: malabsorption of bile salts, obstruction of the biliary tract, severe hepatic dysfunction or increased cholesterol excretion from liver into bile

Sx: pain
Tx: Surgery (Cholecystectomy; removal of the gall bladder)

86
Q

Kwashiorkar Disease

A

Path: Diet deficient in protein

Effect: Lack of proteins for normal cellular/bodily functions

Sx: Growth failure, fatigue, dermatitis, oedema (low albumin)

Tx: Protein supplementation

87
Q

Lactose Intolerance

A

Path: Primary: congenital deficiency in amount/activity of lactase.
Secondary: temporary intolerance due to another intestinal disease

Sx: not present in newborns untill 2-3 weeks after birth (uses enzyme & AB from mom’s milk)

If chronic > severe diahrrea; intestinal disorders

Dx: Hydrogen breath test or presence of reducing sugars in the stool

Tx: Lactose free diet or supplemental lactase

88
Q

Steatorrhea

A

Path: defective lipid metabolism due to: defective emulsification and absorption, digestion of lipids, or Chylomicron formation

Sx: Bulky and foul smelling stools (this itself is steathorrea) + bloating and abdominal pain

89
Q

Gout

A

Path: Crystallization/deposition of Uric Acid (purine metabolic byproduct) in the joints

Effect: Causes inflammation > pain

90
Q

Diabetes Mellitus

A

Path: •Type 1: inability to produce insulin
•Type 2: resistance to insulin

Effect: Hyperglycemia and glucosuria
Also > increased fatty acid metabolism > prod ketone bodies

Dx: Ketone breath, glucose test

Tx: insulin for Type I

91
Q

Arsenate Poisoning

A

Path: Arsenate (AsO4^2-) is added to Glyceraldehyde-3-P in the place of an inorganic phosphate by Glyceraldehyde-3-P Dehydrogenase > broken down into 3-Phosphoglycerate.

Effect: substrate level phosphorylation of 1,3-BPG by phosphoglycerate kinase is bypassed > 0 ATP from Glycolysis > cell lyses.

92
Q

Dental Caries (tooth decay)

A

Path: Anaerobic glycolysis by bacteria by their sucrose secretions > lots of lactic acid and pyruvate > degradation of enamel > tooth decay

Tx: Fluoride inhibits enolase, preventing the completion of glycolysis > stops buildup of pyruvate and lactic acid

93
Q

Beri Beri Syndrome

A

Path: Severe deficiency in Thiamine (Vitamin B1)
Two types: Wet & Dry
• (oedema vs. no oedema)

Effect: Inability of PDH complex (E1) and alpha-Ketoglutarate to function > low ATP

Sx: Advanced neuromuscular and cardiac disorders including delirium, muscle weakness & atrophy, memory loss, peripheral vasodilation and increased venous return to the heart > death by high-output cardiac failure

Cause: eating polished rice

94
Q

Wernicke-Korsakoff Syndrome

A

Path: Severe deficiency in Thiamine due to alcohol abuse/poor diet

Effect: Inability of PDH complex (E1) and alpha-Ketoglutarate to function > low ATP

Sx: Initial Phase (Wernicke’s Encephelopathy): Delerium, Mental derangement ataxia, Ophthaloplegia

Late Phase (Korsakoff Psychosis): Anterograde amnesia, Focal lesions in brain, irreversible

Tx: supp, if early

Dx: urine B1, measure transketolase activity; and lactate/pyruvate levels post glucose-intake

95
Q

Fluoroacetate Toxicity

A

Path: Fluoroacetate > Fluoroacetyl-CoA,+ Oxaloacetate > Fluorocitrate, + aconitase > stops prod of Isocitrate

Effect: TCA cycle inhibited > Death

96
Q

Malonate Toxicity

A

Path: Malonate is a homologue of succinate > binds to succinate dehydrogenase (Competitive Inhibitor) > blocking the TCA cycle

Effect: buildup of Succinate, alpha-Ketoglutarate and Citrate > death

97
Q

Leber Hereditary Optic Neuropathy (LHON)

A

path: Mutation of Complex I > Inability of NADH to be run through ETC > low ATP

Sx: Loss of bilateral vision (late onset) due to neuroretinal degeneration [Optic nerve due to high energy demand > needs OxPhos

Additional info: Passed from affected mother to all offspring due to mitochondrial genetics

98
Q

Myoclonic Epilepsy & Ragged Red Fiber Disease (MERRF)

A

Path: Mutation in the mitochondrial gene coding for the mitochondrial Lysine tRNA > lack of it

Sx: in late childhood: uncontrollable muscle jerking (myoclonus), enlarged mitochondria in muscle, ragged-red fibers, and epileptic seizures

Lactic acidosis, progressive dementia and cardiac problem may also be seen

99
Q

Mitochondria Encephalomyopathy, Lactic Acidosis & Stroke-like Episodes (MELAS)

A

Path: Mutations in the mitochondria gene for Leucine tRNA > lack of it

Sx: Onset 5-15 y/o; neurodegenerative disease > stroke-like episodes, lactic acidosis, vomiting, tiredness and muscle weakness.

Repeated strokes may result in blindness, brain damage, dementia and loss of muscle control

100
Q

Aminoglycoside-induced Deafness

A

Path: Mutation of the mitochondrial gene for mito’s 12S rRNA subunit > increases affinity of aminoglycosides for host ribosomes

Effect: Lack of mitochondrial 12S rRNA subunit

antibiotics (particularly streptomycin and gentamycin) bind mito’s rRNA > point mutation in the subunit’s gene > interference with translation of mitochondrial genome > poor ATP Synthase translation

Sx: Cochlea of the ear (high energy demand) > deafness observed

101
Q

Type I GSD (Von Gierke Disease)

A

Path: G6Phosphatase deficiency (Type 1a); OR G6Phosphate transporter deficiency (Type 1b)

Effect: Glucose not leave liver & can’t convert glucose from G6P > Glycogen acc; Hypoglycemia > TAG mobilization; Liver cannot recycling Lactate (Cori Cycle) > Acidosis; Lactate > Lipidogenesis > hyperlipidemia

Sx: Hepatomegaly, Hyperlipidemia, Metabolic acidosis, Neutropenia in Type 1b

Dx: Blood glucose, lactate, TAG, cholesterol concentrations, Ultrasound for liver size, Intestinal biopsy for assay G6Pase activity

Tx: Avoid fasting, complex carbs, Nasogastric infusion of sugar during sleep

102
Q

Type II GSD (Pompe Disease)

A

Path: Lysosomal alpha1,4-glucosidase (Debranching Enzyme) deficiency

Effect: can’t digest glycogen in lysosomes of all Glycogen storing tissue > lysosomes become engorged
•Infantile form, Juvenile form (partial activity), &Adult form

Sx: • Cardiomegaly
• Engorged Lysosomes
• Early death from heart failure if Infantile
* Juvenile presents in early childhood > death in 20s/30s
• Adult form > slow myopathy

Brain-stem and Spinal Cord are particularly affected; “Dead Baby”

103
Q

Type III GSD (Cori/Forbes Disease)

A

Path: Glycogen Debranching Enzyme deficiency in the Liver, Myocardium & Skeletal Muscle

Effect: milder than type I: Can’t digest glycogen > variable degrees of hypoglycaemia in the fasted state

Sx: Hepatomegaly, Progressive myopathy, Asymptomatic hypertrophic cardiomyopathy (only in the elderly)

Tx: Stabilizing the hypoglycaemic state, Increased protein intake to fuel gluconeogenesis, Glucagon and epinephrine can raise blood sugar levels in the fed state NOT the fasted state

104
Q

Type IV (Andersen Disease)

A

Path: Branching Enzyme Deficiency

Effect: Formation of long, abnormal glycogen without branching (amylopectin) > not soluble > precipitates in liver & heart > autoimmune attack

Sx: Hepatomegaly > liver cirrhosis

105
Q

Type V GSD (McArdle Disease)

A

Path: Muscle phosphorylase deficiency

Effect: can’t break down glycogen > limited ATP production + glycogen acc in muscle

Sx: Myoglobin in the urine; NO HYPOGLYCEMIA (only affecting muscle) ; NO LACTIC ACIDEMIA; Elevated CK-MM

Dx: assay phosphorylase activity, AEROBIC EXERCISE + O2 > oxidize FA’s[

Tx: easy PA + Avoid strenuous activity to avoid muscle wasting; sucrose drink prior to exercise; creatine supp

106
Q

Type VI (Hers Disease)

A

Path: Liver Glycogen Phosphorylase activity

Sx: Glycogenolysis is impaired > hepatomegaly not splenomegaly

milder than Type I (Von Gierke’s) b/c liver can still turn pyruvate > glucose > export

• NO ACIDOSIS

107
Q

Type VII (Tarui Disease)

A

Path: Muscle PFK-1 deficiency > partial deficiency in erythrocytes ( more than one isoform of PFK-1 in RBC’s)

Effect: Can’t phosphorylate Fructose-6-P > impaired glycolysis

Sx: • muscle cramping and weakness upon exercise

Dx: low hematocrit, no lactic acidemia after exercise

108
Q

High Fructose Intolerance

A

Path: Aldolase B deficiency

Effect: Can’t break down Fructose-1-P to Glyceraldehyde and DHAP > Depletion Pi levels > low gluconeogenesis
•Accumulation of Uric Acid + Glycolysis > acidosis • Sorbitol acc -> Death if untreated

Sx: once stopped breast feeding; Fructosuria; Hypoglycaemia; Jaundice, icterus & hepatosplenomegaly

Dx: Hypoglycaemia; Hyperuricaemia; *Urine test + for reducing sugars

Tx: Reduced fructose from the diet

109
Q

Fructokinase Deficiency

A

Path: Fructokinase Deficiency > Inability to phosphorylate Fructose to Fructose-1-P > Fuctosuria

Important to note: Fructose will be metabolized by the Hexokinase pathway and Glycolysis • No Glucose or Galatose in the urine •No hepatomegaly

110
Q

Classic Galactosemia

A

Path: Galactose-1-P-Uridyl Transferase deficiency/defect

Effect: Inability to metabolize Galactose-1-P (toxic) into Glucose-1-P > Acc > Depletion Pi levels

Sx: appear immediately after birth; Similar symptoms to HFI except more tissues affected • Galactosaemia • Galactosuria • Irreversible mental retardation • Liver damage • Cataracts due to Galactitol buildup

111
Q

Galactokinase deficiency (Non-classical Galactosaemia)

A

Path: Galactokinase deficiency > Inability to phosphorylate Galactose –> Galactose-1-P

Sx: Cataracts due to Galactisol production

will not be toxic as your Pi levels are unaffected

112
Q

Cataracts

A

Path: Acc Sorbitol (very osmotic) in the body > influx of water into the cells of the eye > cell swelling > denaturation of cystallins (structual organization impaired) >vision problems

More info: Excessive Glucose levels > Sorbitol; Due to greater activity of Aldose Reductase (Glucose–>Sorb) than Sorbitol Dehydrogenase (Sorb–>Fructose), Sorbitol will accumulate

113
Q

Glucose-6-Phosphate Dehydrogenase Deficiency

A

Path: Inability to oxidize Glucose-6-Phosphate to 6-Phosphogluconate so can’t reduce NADP+ to NADPH; RBC’s susceptible

Effect: Inability to recycle Glutathione, > susceptible to ROS attack -> Severe oxidative stress when ingesting: Antibiotics • Antimalarials • Antipyryretics • Sulphamethoxazole • Fava beans • Infection

Sx: • Bouts of acute haemolytic anaemia • Jaundice (neonate mental retardation) • Weakness/fatigue • General malaise

Diagnosis: - Haemoglobin in the blood - Urine a dark brown - Heinz Bodies: clumps of denatured proteins due to sulfhydryl interactions

Note: Affected patients are protected from Malaria

114
Q

Chronic Granulamtous Disease

A

Path: Phagocytes have defective NADPH Oxidase > cannot make Superoxide from O2 > Cannot fight bacterial and fungal infections

Sx: Recurrent bacterial and fungal infections; phagocytes will wall off structures because they can’t actually defeat them - these are granulomas in the skin, GIT and genitourinary

115
Q

Myeloperoxidase Deficiency

A

path: Deficiency of Myeloperoxidase enzyme (cannot make Hydrochlorous Acid [HOCl] from H2O2 > Cannot fight fungal infections

Sx: Recurrent fungal infections; 50% of patients are asymptomatic

Note: Occurs in a lot of diabetics

116
Q

Amylotropic Lateral Sclerosis

A

Path: spontaneous mutations; One known cause is the misfolding of SOD-1 in the ER

Effect: • misfolded proteins aggregate –> cell death • Excess Superoxide accumulates (because you can’t break it down) –> apoptosis

Sx: Weakness, atrophy of skeletal muscles, loss of motor nuclei

Biochem Diseases- (my version) (16 decks)

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