Goljan General Path

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genetic disorders in african americans (4)

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sickle cell disease/trait, alpha/beta thalassemia, G6PD deficiency, hereditary persistence of HbF

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genetic disorders in Ashkenazi Jews

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factor XII deficiency, Gaucher's disease, Tay-Sachs disease

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genetic disorders in Mediterranean people

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G6PD deficiency, sickle cell trait/disease, beta thalassemia - all of these protect people from contracting malaria

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genetic disorders in Southeast Asians

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alpha thalassemia

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down syndrome in a child with 46 chromosomes would be due to...

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Robertsonian translocation (balanced) of chromosome 21 in a normal functioning Mom that has only 45 chromosomes on karyotype

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inc phenylalanine + dec tyrosine = ? enz def

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pku

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pt with what enz def needs to avoid nutrasweet?

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PKU

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vitamin(s) important as a reducing agent in biochemical rxns

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vit C

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vitamin(s) important as cofactor(s) in oxidative decarboxylation rcns (removes CO2)

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thiamine (B1) and pyridoxine (B6)

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vitamin(s) important in oxidative phosphorylation rxns

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riboflavin (B2) and niacin (B3)

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vitamin(s) important in carboxylase (adds CO2) activity

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biotin

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vitamin(s) important in transamination rxns

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pyridoxine (B6)

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vitamin(s) that are an important component of coenzyme A

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pantothenic acid

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vitamin(s) important in DNA synthesis

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folate and vit B12

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vitamin(s) important in cell growth and differentiation

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vit A, folate and vit B12

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vitamin(s) important as antioxidants

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beta-carotene (form of vit A), vit E and ascorbic acid (vit C)

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vitamin(s) important in the synthesis of steroids

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vit D

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vitamin(s) important in hemostasis

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vit C, vit K and vit E

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beta-carotenemia

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white sclera + yellow skin; drinking too much carrot juice; no toxicity; yellow skin discoloration also noted in primary hypothyroidism

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clinical uses of calcitonin

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hypercalcemia, Paget's disease of bone, osteoporosis

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functions of vitamin C

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reducing agent - posttransational hydroxylation of proline/lysine in collagen synthesis; reduction of iron from ferric to ferrous state (occurs in the GI tract); keeps tetrahydrofolate (THF) in the reduced form; antioxidant (traps free radicals); synthesis of catecholamines
Also prevents nitrosamination - important in preventing stomach cancer due to nitrosamines (smoked foods)

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vitamin deficiency that can cause perifollicular hemorrhage

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vitamin C deficiency

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functions of thiamine (vitamin B1)

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Thiamine pyrophosphate (TPP) is a cofactor in oxidative decarboxylation reactions

1. pyruvate dehydrogenase complex:
pyruvate -> acetyl-CoA
acetyl-CoA + oxaloacetate -> citrate
NAD- -> NADH2 reaction generates 6 ATP
2. cofactor in alpha-ketoglutarate dehydrogenase reaction:
alpha-ketoglutarate -> succinyl CoA in TCA cycle
NAD -> NADH2 reaction generates 6 ATP
3. cofactor in alpha-keto acid dehydrogenase complex:
branched-chain amino acid metabolism
absence of this enzyme results in maple syrup urine disease
4. cofactor in RBC transketolase enzyme reactions:
two-carbon transfer reactions
in pentose phosphate pathway

Note the importance of thiamine in generating ATP!!

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patient given IV with glucose and develops Wernicke's encephalopathy...why?

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- glucose converted to pyruvate and pyruvate to acetyl CoA
- uses up remaining thiamine
- precipitates attack
- always infuse IV thiamine(vitamin B1) before giving a patient glucose!!!

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riboflavin (B2) functions

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- component of flavin mononucleotide (FMN)/flavin adenine dinucleotide (FAD): important in oxidative phosphorylation reactions
- component of glutathione reductase in pentose phosphate shunt: produces reduced glutathione, a potent antioxidant

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MC sign of riboflavin deficiency

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corneal neovascularization - may also see facial dermatitis, cheilosis (fissuring/dry scaling of vermilion borders of lips), stomatitis (fissuring/dry scaling of corners of lips), glossitis

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niacin and nicotinamide

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- diet-derived and then converted into nicotinic acid
- required for synthesis of NAD+/NADH2 and NADP-/NADPH

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NAD+ -> NADH2 reactions (5 of them)

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1. glyceraldehyde 3-phosphate -> 1,3-diphosphoglycerate: glycolysis

2.lactate -> pyruvate
- Cori cycle: muscle and RBCs give liver lactate for its conversion into glucose
- Gluconeogenesis

3. malate -> oxaloacetate:
- Gluconeogenesis
- oxaloacetate cannot exit the mitochondria, so it must be converted to malate or aspartate, which are able to exit the mitochondria and be reconverted back into oxaloacetate

4. pyruvate -> acetyl CoA
- glycolysis
- TCA cycle
- one way reaction: underscores why acetyl CoA is not a substrate for gluconeogenesis

5. beta-oxidation of fatty acids: 3 ATP per NADH2

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NADH -> NAD+ reactions (2 of them)

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1. dihydroxyacetone phosphate (DHAP) -> glycerol 3-phosphate
- glycolysis
- VLDL synthesis: glycerol 3-phosphate is the carbohydrate backbone for synthesis of VLDL
2. acetoacetate -> beta-hydroxybutyrate: ketone synthesis

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NADP+ to NADPH reactions (8 of them, icky!!)

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1. glucose 6-phosphate -> 6-phosphogluconate
- pentose phosphate pathway
- major site for synthesis of NADPH
- synthesis of glutathione, an antioxidant
2. malate -> pyruvate
- occurs in the synthesis of fatty acids
- second MC reaction for generation of NADPH
3. molecular oxygen -> superoxide free radical
- oxygen-dependent myeloperoxidase system using NADPH oxidase
- microbicidal system
4. cytochrome P450 pathway
- drug metabolism
- drug free radicals
- aromatization reactions
- synthesis of vitamin D and steroid hormones
5. fatty acid synthesis
6. cholesterol -> pregnenolone: steroid synthesis
7. cholesterol synthesis
8. ribonucleotides -> deoxyribonucleotides: using thioredoxin reductase

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U wave

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Associated with hypokalemia. Most common cause is diuretic therapy (e.g., thiazides; loop diuretics).

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Peaked T wave

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Associated with hyperkalemia. Most common cause is renal failure.

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ST depression

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Subendocardial ischemia (e.g., classical angina pectoris), unstable angina on stress test.

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ST elevation

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Transmural ischemia (e.g., AMI), pericarditis, ventricular aneurysm, Prinzmetal’s angina on stress test.

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Prolonged PR interval

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First degree heart block (e.g., common finding in patients on digitalis)

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Atrial fibrillation

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MC chronic arrhythmia. Absent P waves. Absent a waves in jugular venous pulse. Irregularly irregular pulse. Most dangerous arrhythmia for embolization.

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Ventricular premature beats

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Wide QRS complexes usually not preceded by a P wave. Most common arrhythmia in coronary care unit. Danger of precipitating ventricular fibrillation.

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Ventricular fibrillation

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Irregular rhythm with an undulating low-amplitude baseline without QRS complexes or T waves. Most common cause of death in an AMI.

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Anterior AMI

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Q waves in I and V1-V4. Left anterior descending coronary artery thrombosis.

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Inferior AMI

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Q waves in II, III and aVF. Right coronary artery thrombosis.

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Wolff-Parkinson-White

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Short PR interval with a normal P wave. Delta wave on upstroke of R wave. Aberrant bundle bypasses the atrioventricular node. Cause of sudden death.