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BCHM 270 Diseases Test With
Correct Answers
Sickle Cell Anemia - ANSWER 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 - ANSWER Biochemistry: Abnormal cleavage of the hydrophobic section of a protein, which causes aggregation into long, insoluble neurotoxin fibrils
Prion Disease - ANSWER Biochemistry: Proteins are refolded to form a-helix into B-sheet form, producing long insoluble fibrils and a loss of function
Scurvy - ANSWER 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) - ANSWER 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 - ANSWER 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 - ANSWER Biochemistry: Caused by a sharp increase of xarbon dioxide in the blood
Lactose Intolerance - ANSWER 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 - ANSWER Biochemistry: A G6PD deficiency. Inability to detoxify oxidizing agents due to an insufficient supply of NADPH. Can be developed by:
- treatment with oxidant drugs
glucose. The liver overproduces ketone bodies as a result. These ketone bodies are acidic, which results in severe metabolic acidosis.
Symptoms: Blood levels of ketone bodies increase. High acetone levels lead to fruity odor on the breath. Excretion of glucose and ketone bodies in the urine results in dehydration fo the body. Acidic ketone bodies lower blood pH, which results in coma and death if untreated.
Hypercholesteremia - ANSWER Biochemistry: Body cholesterol increases
Treatment: Statins
Artherosclerosis - ANSWER Biochemistry: Oxidized LDL leads to development of macrophage from fatty cells and fatty plaques
Cholelithiasis / Gallstone Disease - ANSWER Biochemistry: Cholesterol forms gallstones due to insufficient bile salts
Treatment: Surgical removal of the gall bladder or chenodeoxycholic acid supplements used to dissolve gallstones
Familial Hypercholesterolemia
Type II Hyperlipidemia - ANSWER Biochemistry: Lack of LDL receptor or overproduction of cholesterol leads to cardiovascular disease
Lipoprotein Lipase Deficiency
Type I Hyperlipidemia - ANSWER Biochemistry: Genetic mutations. which prevent the synthesis of lipoprotein lipase, preventing the breakdown of TAGs in chylomicrons.
Hypertriacylglycerolemia - ANSWER Biochemistry: Lipoprotein lipase of Apo C-II deficiency prevents breakdown of TAG
Acute Pancreatitis - ANSWER Biochemistry: Obstruction o the pancreatic ducts, blocking secretions. The zymogens are converted into their active forms and attack the tissue
Cystinuria - ANSWER Biochemistry: Defective transporter for basic amino acids including arginine, cystine, ornithine and lysine. These amino acids cannot be reabsorbed in the kidney and are excreted in the urnie
Hyperammonemia - ANSWER Biochemistry: Genetic defects of the urea cycle (carbamoyl phosphate synthase I) or diseases of the liver. Cause the capacity of the hepatic urea cycle to be far less than normal rates of ammonia generation.
Maple Syrup Urine Disease (MSUD) - ANSWER Biochemistry: Deficiency of branched-chain a-keto acid dehydrogenase, which causes elevated levels of
Can be insulin-induced, postprandial, fasting, or alcohol-related
Type I Diabetes - ANSWER B-cells destroyed, eliminating production of insulin. Low to absent plasma insulin
Type II Diabetes - ANSWER Insulin resistance combined with inability of B-cells to produce appropriate quantities of insulin. Plasma insulin high in early disease, low in chronic disease
