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Flashcards in Diseases Deck (17):

Respiratory Acidosis

Low pH, high pCO2, high HCO3-
Caused by asthma, bronchitis, obesity, sedatives/anesthetics


Respiratory Alkalosis

High pH, low pCO2, low HCO3-
Caused by anxiety/pain, high altitude, hyperventilation


Metabolic Acidosis

Low pH, low HCO3-, low pCO2
Caused by renal failure, methanol poisoning, diabetic ketoacidosis


Metabolic Alkalosis

High pH, high HCO3-, high pCO2
Caused by acute alkali administration, vomiting, gastric aspiration, diuretics


Creutzfeldt-Jakob disease

Prion disease (also Kuru, vCJD (mad cow)
prion protein mutation results in incorrect folding structure - induces normal proteins it contacts to also change conformations
Insoluble aggregate fibers accumulate in brain & result in degeneration of brain


Parkinson disease

Results from loss of dopaminergic neurons - lead to tremor, bradykinesia, and postural instability
Formation of Lewy bodies in brain - aggregates of alpha-synuclein that precedes neurodegeneration (induces formation of more Lewy bodies)


Alzheimer disease

Most common cause of dementia
Plaque (containing amyloid-beta) and fibrillary tangles (containing tau) form in brain
amyloid-beta seed plaque formation, abnormal tau seeds fiber tangle formation


Sickle cell anemia

Mutation replacing glutamate with valine on beta chain of Hb creates a sticky hydrophobic patch
In T-form patch is exposed and RBC fibers change shape to shield patch - sickle shape, weak cell, blocks blood vessels & damages organs



lack of ascorbate (vitamin C) prevents formation of hydroxyproline & hydroxylysine - essential for stability of triple helices in collagen fibrils
Blood vessels, tendons, and skin become fragile


Ehlers-Danlos syndrome

connective tissue disorders - skin fragility, hyperextensibility, joint hypermobility
Mutations in collagen proteins or proteins required for collagen processing


osteogenesis imperfecta

brittle bone diseases - fragile bones, loss of hearing
Can be lethal or simply slightly reduced one mass


chronic lactic acidosis

primarily caused in kids by PDH deficiency
severe neurological problems
frequently fatal


Thiamin (B1; TPP) deficiency

caused mainly by poor diets in alcoholics, elderly, and low income groups
Early symptoms include constipation, nausea, fatigue, peripheral neuropathy


Wernicke-Korsakoff syndrome

advanced thiamin (B1) deficiency
seen in alcoholics
Mental confusion, ataxia, loss of eye coordination



severe dietary deficiency (esp. thiamin, B1)
Neuromuscular symptoms - muscle weakness, atrophy, fatigue, peripheral neuropathy, lactic acidemia


Essential fructosuria

No fructokinase, no uptake of fructose into the liver
benign - fructose eliminated


Hereditary Fructose intolerance

Caused by a deficiency in aldolase-B
Fructose -P accumulates in liver and can't be broken down
liver damaged