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BCHM 270 Diseases Test PREP WITH COMPLETE SOLUTION
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BCHM 270 Diseases Test PREP WITHCOMPLETE SOLUTION
Sickle Cell Anemia - =Biochemistry: The aggregation of mutated hemoglobin protein caused by
substitution of glutamic acid to valine
Symptoms: RBC take on abnormal sickle shape, causing cells to stick together and cause
blockages in small vessels
Alzheimer's Disease - =Biochemistry: Abnormal cleavage of the hydrophobic section of a
protein, which causes aggregation into long, insoluble neurotoxin fibrils
Prion Disease - =Biochemistry: Proteins are refolded to form a-helix into B-sheet form,
producing long insoluble fibrils and a loss of function
Scurvy - =Biochemistry: Caused by impaired hydroxylation of lysine and proline causing
unstable triple helices due to vitamin C deficiency
Symptoms: Bleeding gums, loose teeth, bruising on the lips
Ehlers-Danlos Syndrome (EDS) - =Biochemistry: Defects of collagen due to mutations in
biosynthetic enzymes or the collagen protein sequence itself
Symptoms: Skin extensibility, fragility, joint hypermobility
Osteogenesis Imperfecta / Brittle Bone Disease - =Biochemistry: Mutation of Gly-X-Y repeating
sequences into amino acids, preventing assembly of helices into a mature collagen fiber
Symptoms: Bones fracture easily with little or no trauma
Respiratory Acidosis - =Biochemistry: Caused by a sharp increase of xarbon dioxide in the blood
Lactose Intolerance - =Biochemistry: An enzyme deficiency, caused by a loss of lactase activity,
either through lactase deficiency or age-dependent loss of lactase activity. This causes lactose
, to not be digested in the small intestine, but instead is metabolized by bacteria in the large
intestine.
Symptoms: Bloating, diarrhea, dehydration
Treatment: Remove lactose from diet or reintroduce lactase to allow for lactose digestion
Hemolytic Anemia - =Biochemistry: A G6PD deficiency. Inability to detoxify oxidizing agents due
to an insufficient supply of NADPH. Can be developed by:
- treatment with oxidant drugs
- favism
- infection
- hereditary disease
Can also be caused by a pyruvate kinase deficiency. Alteration in gene expression of activity,
consequence is premature RBC rupture due to insufficient pyruvate/anaerobic glycolysis/ATP
Treatment: blood transfusion
Steatorrhea - =Biochemistry: Lipid malabsorption due to loss of bile salts or lipases
Symptoms: Increased presence of lipids in feces
Cystic Fibrosis - =Biochemistry: Loss of pancreatic enzymes due to CF-related mucosal
thickening in the pancreas, which blocks pancreatic ducts and causes poor digestion. The body
has two faulty copies of the cystic fibrosis tramsmembrane conductance regulator (CFTR) gene.
CFTR is a chloride ion channel in the plasma membrane that is important for the formation of
sweat, digestive juices and mucus.
Treatment: Supplementing digestive enzymes and additional vitamins to allow them to absorb
the nutrients
Ketoacidosis - =Biochemistry:Occurs in uncontrolled Type I diabetes mellitus. In the absence of
insulin, fats are released and cannot absorb glucose. The liver overproduces ketone bodies as a
result. These ketone bodies are acidic, which results in severe metabolic acidosis.
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