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Substrate Competes With Inhibitor For The Active Site
Inhibition Increases Km
1 min
Non-Competitive Inhibition
Characteristics
Reversible Inhibition
Substrate Freely Binds The Active Site
Inhibitor Strongly Binds Allosteric Site
Km Constant
Enzyme Has Different Conformational Form
Low Vmax
2 mins
Angelman's Syndrome
Mechanism
Paternal Imprinting
Deletion of Chromosome 15q (Maternal Deletion)
Signs And Symptoms
Happy Puppet Syndrome
Inappropriate Laughter
Ataxia
Severe Intellectual Disability (Mental Retardation)
Seizure
Abnormal EEG
2 mins
Prader-Willi Syndrome
Mechanism
Maternal Imprinting
Deletion of Chromosome 15q (Paternal Deletion)
Signs And Symptoms
Hyperphagia
Truncal Obesity
Hypogonadism
Undescended Testicles (Cryptorchidism)
Intellectual Disability (Mental Retardation)
Neonatal Hypotonia (Floppy Baby)
Almond Shaped Eyes
Narrow Bifrontal Diameter
Thin Upper Lip
3 mins
Marfan Syndrome
Mechanism
Fibrillin-1 Mutation
Symptoms
Autosomal Dominant
Tall
Arachnodactyly
Pectus Excavatum
Hypermobile Joints
Aortic Aneurysm And Dissection
Mitral Valve Prolapse (MVP)
Subluxation of Lens (Superior)
2 mins
Ehlers-Danlos Syndrome Types
Types
Types 1 and 2 - Classical
Type V Collagen Mutation
Joints and Skin
Type 3 - Hypermobility
Most Common
Tenascin X Deficiency
Joint Instability
Type 4 - Vascular
Type III Collagen Mutation
Vascular and Organ Rupture
2 mins
Ehlers-Danlos Syndrome Disease
Pathophysiology
Faulty Collagen Synthesis
Autosomal Dominant or Recessive
Various Severities
Signs and Symptoms
Hypermobile Joints
Hyperextensible Skin
Easy Bruising/Bleeding
Berry (Saccular) Aneurysm
Considerations
Brighton Criteria
2 mins
Fragile X
Pathophysiology
Trinucleotide Repeat
CGG Repeats
FMR1 Gene
X-linked Dominant
Signs and Symptoms
Developmental Delay
Autism
Large Ears
Large Jaw
Long Face
Macroorchidism
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
4 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
4 mins
Lesch-Nyhan Syndrome
X-linked Recessive
Absence of HGPRT
Hypoxanthine to IMP
Guanine to GMP
Excess uric acid
Gout
Retardation
Self-mutilation
Choreoathetosis
PRPP is increased
2 mins
Kwashiorkor
Protein Deficiency
Swollen Belly
MEALS
Malnutrition
Edema
Anemia
Liver Malfunction
Skin Lesions
2 mins
Vitamin C Mechanism and Deficiency
Mechanism
Ascorbic acid
Antioxidant
Protects Against Free Radicals
Keeps Iron in Reduced State
Hydroxylation of Proline and Lysine
Necessary for Dopamine B Hydroxylase
Deficiency Signs and Symptoms
Scurvy
Swollen Gums
Bruising
Poor Wound Healing
Hemarthrosis
Perifollicular Hemorrhages
Anemia
4 mins
CN X
Vagus Nerve
Sensory
Aortic Arch Chemoreceptors and Baroreceptors
Taste from Epiglottic Region
Motor
Swallowing
Palate Elevation
Talking
Coughing
Midline Uvula
1 min
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