Benjamin Shared "Biochem Block 2" - 23 Picmonics

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Biochem Block 2

Classic Galactosemia
Pathophysiology
Autosomal Recessive
Galactose-1-phosphate uridyltransferase is Absent (GALT)
Impaired Galactose-1-P to UDP-Galactose
Galactitol Accumulation in Lens
Signs and Symptoms
Infantile Cataracts
Failure to Thrive
Hepatomegaly
Jaundice
Intellectual Disability (Mental retardation)
Increased Risk E. Coli Sepsis
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2 mins
Galactokinase Deficiency
Autosomal Recessive
Galactose to galactose 1P
Galactose appears in blood and urine
Benign
Infantile Cataracts
Failure to develop a social smile
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2 mins
Von Gierke Disease
Pathophysiology
Autosomal Recessive
Type I Glycogen Storage Disease
Glucose-6-Phosphatase Deficiency
Signs and Symptoms
Increased Glycogen in Liver
Hepatomegaly
Enlarged Kidneys
Severe Fasting Hypoglycemia
Increased Triglycerides
Increased Uric Acid (Gout)
Increased Lactic Acid
Doll-like Facies
Treatment
Continuous Oral Glucose (or Cornstarch)
Avoid Fructose and Galactose
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2 mins
Pompe Disease
Pathophysiology
Type II Glycogen Storage Disease
Autosomal Recessive
Deficiency of Lysosomal Alpha 1,4 Glucosidase
Acid Maltase
Signs and Symptoms
Hypertrophic Cardiomyopathy
Hepatomegaly
Macroglossia
Hypotonia
Diagnosis
Increased Glycogen within Lysosomes
Increased Lactate Dehydrogenase (LDH)
Increased Creatine Kinase (CK/CPK)
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2 mins
Cori Disease
Pathophysiology
Type III Glycogen Storage Disease
Deficiency of Alpha 1, 6 Glucosidase
Debranching Enzyme
Limit-Dextrin Accumulation (In Cytosolic Structures)
Signs and Symptoms
Hypoglycemia
Muscle Weakness
Hypotonia
Stunted Growth
Hepatomegaly
Diagnosis
Normal Blood Lactic Acid Levels
Gluconeogenesis Intact
Increased LFT's
Increased Creatine Kinase (CK/CPK)
Treatment
Continuous Feeding
High Protein Diet
Cornstarch (Uncooked)
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4 mins
McArdles Disease
Pathophysiology
Type V Glycogen Storage Disease
Muscle Glycogen Phosphorylase Deficiency
Signs and Symptoms
Increased Glycogen in Muscle
Painful Muscle Cramps
Myoglobinuria
Normal Lactic Acid
Treatment
Vitamin B6
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2 mins
Vitamin B1 (Thiamine)
Mechanism
Branched-chain Ketoacid Dehydrogenase
Pyruvate Dehydrogenase
Alpha-ketoglutarate Dehydrogenase
Transketolase
DEFICIENCY EFFECTS
Wernicke-Korsakoff Syndrome
Beriberi
ATP Depletion
Aerobic Tissues Like Brain and Heart Affected First
Considerations
Deficiency Can Worsen with Glucose Infusion
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2 mins
Beriberi (Thiamine Deficiency)
Thiamine deficiency
Dry beriberi
Polyneuritis
Muscle wasting
Wet beriberi
Dilated Cardiomyopathy
Edema
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50 secs
Wernicke-Korsakoff Syndrome
Thiamine deficiency
Confusion
Ophthalmoplegia
Ataxia
Korsakoff
Confabulation
Personality Changes
Memory loss
Alcoholics
Damage to medial dorsal nucleus
Damage to mammillary bodies
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2 mins
Riboflavin (Vitamin B2)
Classification
Vitamin B2
Biochemistry
FAD
FAD Makes 1.5 ATP
Succinate to Fumarate
DEFICIENCY
Glossitis
Cheilosis
Corneal Vascularization
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2 mins
Vitamin B3 (Niacin)
Derived from Tryptophan
Synthesis Requires Vitamin B6
Constituent of NAD+
Deficiency Causes
Hartnup Disease
Carcinoid Syndrome
Deficiency Symptoms
Pellagra
Diarrhea
Dermatitis
Dementia
Glossitis
Excess Symptoms
Flushing
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1 min
Essential Fructosuria
Autosomal Recessive
Defect in fructokinase
Fructose to fructose 1-P
Benign
Fructose appears in blood and urine
Fructose does not enter cells
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53 secs
Fructose Intolerance
Pathophysiology
Deficiency of Aldolase B
Fructose 1-P To DHAP And GA
Accumulation Of Fructose-1-Phosphate
Inhibition Of Glycogenolysis
Inhibition Of Gluconeogenesis
Clinical Features
Hypoglycemia
Vomiting
Jaundice
Cirrhosis
Autosomal Recessive
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2 mins
G6PD Mechanism
Turns NADP+ to NADPH
NADPH Used by Glutathione Reductase
Detoxifies Free Radicals and Peroxides
X-linked Recessive
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2 mins
G6PD Deficiency
X-linked Recessive
Hemolytic Anemia
Inflammatory Response
Fava Beans
Sulfonamides
Primaquine
Anti TB Drugs
Heinz Bodies
Bite Cells
Prevalent Among African Americans due to Increased Malarial Resistance
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2 mins
Citric Acid Cycle (Krebs Cycle)
Characteristics
Acetyl-CoA + Oxaloacetate
Citric Acid
Isocitric Acid
Produces NADH
Alpha-Ketoglutaric Acid
Produces NADH
Succinyl CoA
Produces GTP
Succinate
Produces FADH2
Fumarate
Uses Water
Malate
Produces NADH
Oxaloacetate
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4 mins
Fructose Metabolism
Liver Fructose Metabolism
Fructose
Fructokinase
Fructose-1-Phosphate
Aldolase B
DHAP
Glyceraldehyde
Glyceraldehyde-3-Phosphate
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2 mins
Glycolysis
Characteristics
Glucose
Hexokinase or Glucokinase
Glucose-6-phosphate
Fructose-6-phosphate
Phosphofructokinase-1 (PFK-1)
Fructose-1,6-bisphosphate
Aldolase
Glyceraldehyde-3-Phosphate
1,3-bisphosphoglycerate
3-phosphoglycerate
2-phosphoglycerate
Phosphoenolpyruvate (PEP)
Pyruvate Kinase
Pyruvate
Pyruvate Dehydrogenase
Acetyl-CoA
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4 mins
Energy Releasing Pathways: Accounting
Characteristics
Anaerobic Respiration
2 ATP
2 NADH
Aerobic Respiration
8 NADH
2 FADH2
2 ATP
Oxidative Phosphorylation
34 ATP
2 ATP Lost
36 Net Total ATP
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2 mins
Anaerobic Respiration
Cytosol
Glucose
Glycolysis
Substrate-level ATP Phosphorylation
2 NADH
2 Net ATP
2 Pyruvate
Fermentation
NAD+ Regeneration
Waste Byproduct
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2 mins

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