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Biochem Genetics USMLE Practice Questions (2 of 4)

Biochem Genetics USMLE Practice Questions (2 of 4)

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139.Most major metabolic pathways are considered to be either mainly anabolic or catabolic.Which of the following pathways is most correctly considered to be amphibolic?A. LipolysisB. GlycolysisC. oxidation of fatty acidsD. Citric acid cycleE. Gluconeogenesis
The answer is: D
In general, the corresponding pathways of catabolism and anabolism are not identical(glycolysis versus gluconeogenesis, lipolysis and oxidation of fatty acids versus fattyacid synthesis and lipogenesis, glycogenolysis versus glycogenesis). However, the citricacid cycle is a central pathway from which anabolic precursors of biosynthetic reactionsmay derive or into which the complete catabolism of small molecules to carbon dioxideand water may occur. For these reasons, the citric acid cycle is often called an amphibolic pathway.140.If a homogenate of liver cells is centrifuged to remove all cell membranes and organelles,which of the following enzyme activities will remain in the homogenate?A. Glucose-6-phosphate dehydrogenaseB. Glycogen synthetaseC. AconitaseD. Acyl CoA hydrataseE. Hydroxybutyrate dehydrogenase
The answer is: A
Centrifugation of a cellular homogenate at a force of 100,000 ×
will pellet all cellular organelles and membranes. Only soluble cellular molecules found in the cytosol willremain in the supernatant. Thus, the enzymes of glycolysis and most of those of gluconeogenesis, fatty acid synthesis, and the pentose phosphate pathway will be in thesupernatant. Glucose-6-phosphate dehydrogenase, which results in the formation of 6- phosphoglucono--lactone from glucose-6-phosphate, is the committed step in the pentose phosphate pathway. In the pellet will be the enzymes within mitochondria,including those of the citric acid cycle (aconitase), fatty acid oxidation (acyl CoAhydratase), and ketogenesis (hydroxybutyrate dehydrogenase). Enzymes of glycogendegradation and synthesis (glycogen synthetase) will also be in the pellet associated withglycogen particles.141.Which of the following is appropriate for a patient with renal failure?
A. High-carbohydrate dietB. High-protein dietC. Low-fat dietD. High-fiber dietE. Free water of at least 3 L per day
The answer is: A
A diet high in carbohydrate and fats spares glucose use and inhibits gluconeogenesis,thereby preventing protein catabolism and nitrogen production. A major function of thekidneys is to excrete nitrogen catabolized from proteins in the form of urea. Indeed, themajor clinical measures of renal function are products of protein catabolism [blood ureanitrogen (BUN) and blood creatinine]. A diet for a patient with renal failure shouldtherefore minimize protein and nitrogen load. Although 3 L/day of fluid is a normalintake for adults with healthy kidneys, glomerular filtration and water excretion aredecreased in renal failure. Water and salt intake (particularly potassium) must therefore be limited in renal failure. Excess water or salt intake in patients with renal disease ismanifest clinically by edema (swollen eyelids, swollen lower limbs).142.An adolescent presents with abdominal discomfort, abdominal fullness, excess gas, andweight loss. Blood glucose, cholesterol, and alkaline phosphatase levels are normal.There is no jaundice or elevations. The stool tests positive for reducing substances.Which of the following is the most likely diagnosis?A. Diabetes mellitusB. StarvationC. Nontropical sprueD. Milk intoleranceE. Gallstones
The answer is: D
Milk intolerance may be due to milk protein allergies during infancy, but it is commonlycaused by lactase deficiency in older individuals. Intestinal lactase hydrolyzes the milk sugar lactose into galactose and glucose, both reducing sugars that can be detected asreducing substances in the stool. The symptoms of lactose intolerance (lactase deficiency)and other conditions involving intestinal malabsorption include diarrhea, cramps, andflatulence due to water retention and bacterial action in the gut. In nontropical sprue,symptoms seem to result from the production of antibodies in the blood against fragmentsof wheat gluten. It seems likely that a defect in intestinal epithelial cells allows tryptic peptides from the digestion of gluten to be absorbed into the blood, as well as to exert aharmful effect on intestinal epithelia.Gallbladder inflammation (cholecystitis) usually presents with acute abdominal pain(colic) with radiation to the right shoulder. The normal composition of bile is about 5%cholesterol, 15% phosphatidylcholine, and 80% bile salt in a micellar liquid form.
Increased cholesterol from high-fat diets or genetic conditions can upset the delicatemicellar balance, leading to supersaturated cholesterol or cholesterol precipitates thatcause gallstone formation. Removal of the gallbladder is a common treatment for this painful condition.Mobilization of fats with the production of ketone bodies occurs during fasting andstarvation, but ketone production is well controlled. During uncontrolled diabetesmellitus, ketogenesis proceeds at a rate that exceeds the buffering capacity of the blood to produce ketoacidosis.143.Juvenile diabetes mellitus is a disorder of carbohydrate metabolism caused by insulindeficiency. The disease often follows a viral infection with inflammation of the pancreatic cells, but also exhibits genetic predisposition with a 40 to 50% concordancerate in monozygous twins and clustering in families. Juvenile diabetes mellitus is bestdescribed as what type of disorder?’A. Congenital disorder B. Multifactorial disorder C. Mendelian disorder D. Sporadic disorder E. Sex-limited disorder 
The answer is: B
Many common diseases are caused by a combination of environmental and geneticfactors, and are described as multifactorial diseases. Examples include diabetes mellitus,schizophrenia, alcoholism, and many common birth defects such as cleft palate or congenital dislocation of the hip. The proportion of genetically identical monozygoustwins who share a trait such as diabetes mellitus provides a measure of the geneticcontribution to etiology (hereditability). Mendelian disorders are completely determined by the genotype of an individual, and exhibit 100% concordance in identical twins.Sporadic disorders have no genetic predisposition and do not cluster in families except bychance or through similar environmental exposure. Congenital disorders are present at birth, in contrast to juvenile diabetes mellitus, which usually presents during childhood.Sex-limited disorders occur predominantly in males or females, in contrast to theapproximately equal sex distribution of juvenile diabetes mellitus.A couple has three girls, the last of whom is affected with cystic fibrosis. The first-borndaughter marries her first cousin—that is, the son of her mother's sister—and they have ason with cystic fibrosis. The father has a female cousin with cystic fibrosis on hismother's side. Which of the following pedigree diagrams best represents this familyhistory?144.

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