BCHM 270 Diseases Exam Practice Questions and Answers
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Course
BCHM 270
Institution
BCHM 270
BCHM 270 Diseases Exam Practice
Questions and Answers
Sickle Cell Anemia - Correct Answer️️ -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 ...
BCHM 270 Diseases Exam Practice Questions and Answers Sickle Cell Anemia - Correct Answer ✔️✔️-Biochemistry: The aggregation of mutated hemoglobin protein caused by substitution of g lutamic acid to valine Symptoms: RBC take on abnormal sickle shape, causing cells to stick together and cause blockages in small vessels Alzheimer's Disease - Correct Answer ✔️✔️-Biochemistry: Abnormal cleavage of the hydrophobic section of a protein, whic h causes aggregation into long, insoluble neurotoxin fibrils Prion Disease - Correct Answer ✔️✔️-Biochemistry: Proteins are refolded to form a -helix into B -sheet form, producing long insoluble fibrils and a loss of function Scurvy - Correct Answer ✔️✔️-Bioch emistry: 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) - Correct 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 - Correct 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 - Correct Answer ✔️✔️-Biochemistry: Caused by a sharp increase of xarbon dioxid e in the blood Lactose Intolerance - Correct 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 sma ll 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 - Correct Answer ✔️✔️-Biochemi stry: 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. Alt eration in gene expression of activity, consequence is premature RBC rupture due to insufficient pyruvate/anaerobic glycolysis/ATP Treatment: blood transfusion Steatorrhea - Correct Answer ✔️✔️-Biochemistry: Lipid malabsorption due to loss of bile salts or lipases Symptoms: Increased presence of lipids in feces
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