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Biochemistry
Questions MOLECULAR
1. 2. 3. 4. Which histone is not part of the nucleosome core? (p. 66) ________________________________ What is DNA called when it is condensed and transcriptionally inactive? (p. 66) _______________ What is the name for transcriptionally active DNA? (p. 66)_________________________________ What physical property is displayed by nucleic acids that have increasing proportions of guaninecytosine bonds? (p. 67) ___________________________________________________________ Which molecule is yielded by deamination of cytosine? (p. 67)_____________________________ Which enzyme is inhibited by hydroxyurea? (p. 68) ______________________________________ 5-Fluorouracil inhibits _______________, whereas both methotrexate and trimethoprim inhibit _______________. (p. 68) A child has megaloblastic anemia not responsive to vitamin B12 or folate administration. She is small for her age. Serum studies show increased orotic acid and a normal ammonia level. What is the most likely diagnosis? (p. 68) ____________________________________________________ A child has megaloblastic anemia not responsive to vitamin B12 or folate administration. She is small for her age. Serum studies show increased orotic acid and hyperammonemia. What is the most likely diagnosis? (pp. 68, 105) __________________________________________________ A 12-year-old boy with moderate mental retardation visits his physician because of painful swollen joints. During the examination, the boy makes several uncontrolled spastic muscle movements. His medical history includes muscular hypotonia diagnosed when he was 5 months old. When he was 3 years old he was referred to a pediatric dentist for severe repetitive biting of his lip and tongue. What is the most likely diagnosis? (p. 69) _____________________________________________ Silent mutations often result from changes in which position of a codon? (p. 69) _______________ What kind of mutation denotes a DNA change that results in the misreading of all nucleotides downstream from it? (p. 69) ________________________________________________________ What enzyme has exonuclease activity in prokaryotic DNA replication? (p. 70) ________________ What enzyme degrades the RNA primer and replaces it with DNA during prokaryotic DNA replication? (p. 70) _______________________________________________________________ Which category of drugs inhibits DNA gyrase? (p. 70) ____________________________________

5. 6. 7.

8.

9.

10.

11. 12.

13. 14.

15.

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16. 17.

What specific DNA repair mechanism is defective in xeroderma pigmentosum? (p. 71) __________ In single-stranded DNA repair, how are nucleotide-excision and base-excision repair different? (p. 71) ___________________________________________________________________________ ______________________________________________________________________________

18.

Hereditary nonpolyposis colon cancer results from the loss of which DNA repair mechanism? (p. 71) ___________________________________________________________________________ What type of RNA is the longest? The smallest? The most abundant? (p. 72) _________________ ______________________________________________________________________________

19.

20. 21.

What commonly results from a mutation within a promoter? (p. 72) _________________________ What poisonous protein that inhibits RNA polymerase II is found in death cap mushrooms? (p. 72) ______________________________________________________________________________ In eukaryotes, what enzyme makes mRNA? (p. 72) _____________________________________ In eukaryotes, what enzyme makes tRNA? (p. 72) ______________________________________ Patients with which disease make antibodies to spliceosomal small nuclear ribonucleoproteins? (p. 73) ___________________________________________________________________________ -Thalassemia is due to a mutation causing splicing defects in a process that combines different exons within a single gene. What mechanism allows the same gene to encode for various different proteins? (p. 73) _________________________________________________________________ How does tetracycline interfere with protein translation? (p. 74) ____________________________ How do aminoglycosides interfere with protein synthesis? (p. 75) ___________________________ Why are antibiotics such as chloramphenicol, clindamycin, and macrolides selective for bacteria and not toxic to human cells? (p. 75) _________________________________________________ Explain the three steps of protein elongation. (p. 75) _____________________________________ ______________________________________________________________________________ ______________________________________________________________________________

22. 23. 24.

25.

26. 27. 28.

29.

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CELLULAR
30. Fill in the boxes on the image below, noting the appropriate phases of the cell cycle. (p. 76)

31. 32.

Which transition in the cell cycle is prevented by Rb and p53 tumor suppressors? (p. 76) ________ Match the cell type with its description. (p. 76) _____ A. Cells remain in G0 and regenerate from stem cells _____ B. Enter G1 from G0 when stimulated _____ C. Never go to G0 and divide rapidly with a short G1 1. Labile cells 2. Permanent cells 3. Stable cells

33. 34. 35.

Name two cells that are rich in rough endoplasmic reticulum. (p. 76) ________________________ Name two cells that are rich in smooth endoplasmic reticulum. (p. 76) _______________________ A child presents with coarse facial features, clouded corneas, restricted joint movement, and high plasma levels of lysosomal enzymes. What is the most likely diagnosis? (p. 77) _______________ What syndrome results from a microtubule polymerization defect that leads to impaired lysosomal emptying and poor phagocytosis? (p. 78) _____________________________________________ Which anticancer drug used to treat breast cancer can stabilize microtubules? (p. 78) __________ Which antifungal agent targets microtubules? (p. 78) ____________________________________ Which antihelminthic drugs target microtubules? (p. 78) __________________________________ A 22-year-old woman presents with a history of recurrent pneumonia. X-ray of the chest shows dextrocardia. What is the most likely diagnosis? (p. 78) __________________________________ Cilia, flagella, mitotic spindles, neurons, and centrioles are composed of which cytoskeletal element? (p. 78) _________________________________________________________________

36.

37. 38. 39. 40.

41.

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42.

Vimentin, desmin, cytokeratin, glial fibrillary acid proteins, and neurofilaments are examples of which type of cytoskeletal element? (p. 78) ____________________________________________ What effect does digoxins inhibition of Na -K ATPase have on cardiac contractility? (p. 79) _____ ______________________________________________________________________________
+ +

43.

44.

What type of collagen is found in each structure? (p. 79) _____ A. _____ B. Basement membrane or basal lamina 1. Bone, skin, tendon, dentin, fascia, cornea, 2. late wound repair 3. _____ C. Cartilage, vitreous body, nucleus pulposus 4. _____ D. Skin, blood vessels, uterus, fetal tissue, granulation tissue Type I collagen Type II collagen Type III collagen Type IV collagen

45.

British sailors in the 17th century were often unable to hydroxylate proline and lysine residues for collagen synthesis. What disease did they have, and why did the treatment work? (p. 79) ______________________________________________________________________________ What disease leads to an inability to form procollagen from pro chains? (pp. 79, 80) __________ A patient presents with hyperextensible skin, easy bruising, and hypermobile joints. What is the most likely diagnosis? (pp. 79, 80) ___________________________________________________ A baby is born with multiple fractures and hearing loss. What finding would most likely be seen during the ophthalmologic examination? (p. 80) ________________________________________ What is the relationship between Alport's syndrome and Goodpasture's syndrome? (pp. 80, 467) ______________________________________________________________________________

46. 47.

48.

49.

50. 51.

Marfan's syndrome is caused by a defect in what protein? (p. 80) __________________________ Which lung disorder can result from excess elastase activity? (p. 80) ________________________

LABORATORY TECHNIQUES
52. A team of researchers is studying the mechanisms of genetic shift and genetic drift in HIV. To further the investigation, the scientists need to amplify the sequence of DNA shown. Which primer would be appropriate for use with PCR? (p. 81)

53.

Which would travel further on an agarose gel, a fragment of 10 kD or of 100 kD, and why? (p. 81) ______________________________________________________________________________

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54.

Describe each of the following blot techniques: Southern, Northern and Western. (p. 81) Southern blot: ___________________________________________________________________ ______________________________________________________________________________ Northern blot: __________________________________________________________________ ______________________________________________________________________________ Western blot: ___________________________________________________________________ ______________________________________________________________________________

55. 56.

Which assay can detect single-nucleotide polymorphisms? (p. 81) __________________________ What information can be obtained from an ELISA using a test antibody coupled to a colorgenerating enzyme? (p. 81) ________________________________________________________ What is the advantage of FISH over karyotyping? (p. 82) _________________________________ ______________________________________________________________________________

57.

58.

A DNA fragment is added to four different tubes along with DNA polymerase; a radiolabeled primer; and the adenine, thymine, cytosine, and guanine deoxynucleotides. Each tube also contains one of the four bases as dideoxynucleotides. The four tubes are then run on electrophoresis gel and visualized by autoradiography. Which laboratory technique does this describe? (pp. 81-82) ______ ______________________________________________________________________________

59.

Which three chromosome imbalances can be seen on a karyotype? (p. 82) __________________ ______________________________________________________________________________

GENETICS
60. A patient has inherited a mutation in a tumor suppressor gene. Mutation of the remaining (previously normal) copy of the tumor suppressor gene represents a loss of _______________, which may lead to the development of cancer. (p. 83) A genetic disease that shows _______________ _______________ will have mutations at different loci that produce the same phenotype. (p. 83) What is the heterozygote prevalence in a population that is in Hardy-Weinberg equilibrium? (p. 84) ______________________________________________________________________________ 63. How is Prader-Willi syndrome inherited? What are the symptoms? (p. 84) ____________________ ______________________________________________________________________________ 64. How is Angelmans syndrome inherited? What are the symptoms? (p. 84) ____________________ ______________________________________________________________________________

61.

62.

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65.

Which mode of inheritance is represented by each pedigree? (p. 85)

_____ A.

_____ B.

_____ C.

_____ D. 1. 2. 3. 4. 5. 66. Autosomal dominant Autosomal recessive Mitochondrial inheritance X-linked dominant X-linked recessive

_____ E.

What percentage of sons of a carrier mother are expected to inherit an X-linked recessive disease? (p. 85) _________________________________________________________________________ True or False: A mother with an X-linked dominant disease may pass the disease to her sons but not to her daughters. (p. 85) ________________________________________________________ Achondroplasia is the result of a defect in which receptor? (p. 86) __________________________ Adult polycystic kidney disease is inherited in an autosomal- _______________ (dominant/ recessive) pattern, whereas infantile polycystic kidney disease is associated with an autosomal_______________ (dominant/recessive) pattern. (p. 86) A patient has multiple telangiectasias and skin discolorations, and notes recurrent epistaxis. What other physical finding is most likely to be seen? (p. 86) _______________________________ Can refractory hereditary spherocytosis be cured? If so, how? (p. 86) _______________________ A tall man comes to the emergency room with the combination of a dissecting ascending aorta and acute mitral valve prolapsed. What disorder best explains these findings? (p. 86) ______________ A patient has hemangioblastomas of the retina and cerebellum, as well as bilateral renal cell carcinoma. What is the most likely diagnosis? (p. 86) ____________________________________ What renal findings might distinguish a patient with tuberous sclerosis from a patient with adult polycystic kidney disease? (p. 86) ___________________________________________________

67.

68. 69.

70.

71. 72.

73.

74.

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75.

Before his anticipated death, a 42-year-old man had received many years of treatment for depression, severe cognitive decline, and involuntary writhing movements. His father had similar symptoms shortly before his death. What is the cause of this patients most likely disease? (p. 88) ______________________________________________________________________________ Cystic fibrosis results from a defect in which gene? Which chromosome? Which ion channel? (p. 87) ___________________________________________________________________________ Which two pathogens are the most likely to cause recurrent pulmonary infections in a patient with cystic fibrosis? (p. 87) _____________________________________________________________ A patient with cystic fibrosis has an increased risk a deficiency of which four vitamins? (p. 87) ______________________________________________________________________________ A 4-year-old boy needs to use his upper extremities to push against his legs in order to stand up. What maneuver is he using? (p. 87) _________________________________________________ A male patient has a long face, a large jaw, large ears, autism, and macroorchidism. What is the most likely diagnosis? (p. 87) _______________________________________________________ A newborn is diagnosed with Down syndrome. She is vomiting bilious material. What is the most likely cause? (p. 88) ______________________________________________________________

76.

77.

78.

79.

80.

81.

NUTRITION
82. Match each set of symptoms/conditions with the vitamin that is deficient. (pp. 90-94) _____ A. Bruising, anemia, swollen gums, and poor wound healing _____ B. Cheilosis and corneal vascularization _____ C. Convulsions, hyperirritability, peripheral neuropathy, and sideroblastic anemia _____ D. Dermatitis, enteritis, and alopecia _____ E. Dermatitis, enteritis, alopecia, and adrenal insufficiency _____ F. Diarrhea, dermatitis, and dementia _____ G. Hemolytic anemia, muscle weakness, and neuropathy _____ H. Hemorrhagic disease of the newborn _____ I. Hypocalecmic tetany _____ J. Macrocytic, megaloblastic anemia with no neurologic problems _____ K. Macrocytic, megaloblastic anemia, subacute combined degeneration, paresthesia, and optic neuropathy _____ L. Night blindness _____ M. Wernicke-Korsakoff syndrome 83. 1. 2. 3. 4. 5. 6. 7. 8. 9. 10. 11. 12. 13. Biotin Folic acid Vitamin A Vitamin B1 Vitamin B2 Vitamin B3 Vitamin B5 Vitamin B6 Vitamin B12 Vitamin C Vitamin D Vitamin E Vitamin K

A 64-year-old woman is brought to her primary care physician by her son because of progressive vision loss. She had emigrated from Southeast Asia 1 week earlier. The son mentions that his mothers poor vision worsens at night, causing her to frequently run into the bedroom wall. Physical examination shows dry conjunctivae and a small build-up of keratin debris. The patient is diagnosed with a vitamin deficiency. What other medical condition results from deficiency of a fatsoluble vitamin? (p. 93) ___________________________________________________________

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METABOLISM
84. Fill in the rectangles in the image below. Which steps of glycolysis are reversible (add arrows to squares)? (p. 96)

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85.

Match each of the following processes with its rate-determining enzyme. (pp. 95-96) _____ A. _____ B. _____ C. _____ D. _____ E. _____ F. _____ G. _____ H. _____ I. _____ J. _____ K. _____ L. _____ M. Cholesterol synthesis De novo purine synthesis De novo pyrimidine synthesis Fatty acid oxidation Fatty acid synthesis Glycogen synthesis Glycolysis Gluconeogenesis Glycogenolysis HMP shunt Ketogenesis TCA cycle Urea cycle 1. Acetyl-CoA carboxylase 2. Carbamoyl phosphate synthetase I 3. Carbamoyl phosphate synthetase II 4. Carnitine acyltransferase I 5. Fructose-1,6-bisphosphatase 6. G6PD 7. Glutamine-PRPP amidotransferase 8. Glycogen phosphorylase 9. Glycogen synthase 10. HMG-CoA reductase 11. HMG-CoA synthase 12. Isocitrate dehydrogenase 13. Phosphofructokinase-1

86.

How many ATP molecules can be created by the metabolism of glucose? (p. 97) ______________ ______________________________________________________________________________

87.

Fill in the boxes on the image below, noting the substrates of the urea cycle. (p. 105)

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88.

Fill in the boxes on the image below, noting the enzymes that catalyze each step of catecholamine synthesis. (p. 107)

89.

A 16-year-old boy presents for a routine visit. Physical examination shows symptoms consistent with Fabry's diseases. Examination of his vascular endothelium would most likely show pathologic accumulation of which substance? (p. 111) ____________________________________________

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90.

For each lysosomal storage disease in the chart below, name the enzyme and accumulated substrate(s). (p. 111) Disease Fabrys disease Gauchers disease Hunters syndrome Hurlers syndrome Krabbes disease Metachromatic leukodystrophy Niemann-Pick disease Tay-Sachs disease Deficient Enzyme Accumulated Substance(s)

91.

Most mucopolysaccharidoses are inherited in a(n) _______________-_______________ pattern; the exception is _______________. (p. 111) Most sphingolipidoses are inherited in a(n) _______________-_______________ pattern; the exception is _______________. (p. 111) Match the lipoprotein with its function. (p. 115) _____ A. _____ B. _____ C. _____ D. _____ E. Delivers dietary TGs to peripheral tissues Delivers hepatic cholesterol to peripheral tissues Delivers hepatic TGs to peripheral tissues Delivers TGs and cholesterol to liver Mediates cholesterol transport from periphery to liver 1. 2. 3. 4. 5. Chylomicron HDL IDL LDL VLDL

92.

93.

Answers MOLECULAR
1. 2. 3. H1. Heterochromatin. Euchromatin. (It is less condensed and accessible to replication enzymes.)

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4. 5. 6. 7. 8. 9. 10.

Increasing melting temperatures due to the tighter binding of the strands. Uracil. Ribonucleotide reductase. Thymidylate synthase; dihydrofolate reductase. Orotic aciduria. Ornithine transcarbamylase deficiency. (Orotic aciduria does not have hyperammonemia.) This child has Lesch-Nyhan syndrome, which is characterized by mental retardation, selfmutilation, aggression, hyperuricemia, gout, and choreoatheosis. It is caused by the absence of HGPRT, which leads to defective purine salvage. The third position (due to tRNA wobble). Frameshift. DNA polymerase III has 3' to 5' exonuclease activity for proofreading. DNA polymerase I. Fluoroquinolones. (They impair bacterial DNA synthesis.) Nucleotide excision repair. During nucleotide repair, the entire nucleotide structure is removed and replaced. During base excision repair, the base is clipped off of the sugar and repaired without the entire backbone of the DNA being taken apart. The mismatch repair system. mRNA is the longest type, tRNA is the smallest, and rRNA is the most abundant type of RNA. A significant decrease in gene transcription. -Amanitin. (When consumed, it causes liver failure.) RNA polymerase II. RNA polymerase III. Lupus. Alternative splicing. (In this case, the alternative splicing yields a pathologic protein.) Tetracycline binds to the 30S subunit of the ribosome, blocking attachment of the aminoacyl tRNA. Aminoglycosides inhibit formation of the initiation complex, causing misreading of mRNA. They affect the 50S subunit of the ribosome, which is found in prokaryotic cells.

11. 12. 13. 14. 15. 16. 17.

18. 19. 20. 21. 22. 23. 24. 25. 26. 27. 28.

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29.

(1) Aminoacyl-tRNA binds to the A site. (2) Peptidyltransferase adds a peptide to the amino acid chain at site A. (3) The ribosome advances three nucleotides in the 3 direction, thereby moving the peptidyl tRNA to the P site.

CELLULAR
30.

31. 32. 33. 34. 35. 36. 37. 38. 39. 40. 41. 42. 43.

Transition from G1 to S phase. (Defective cells are not allowed to undergo DNA synthesis.) A-2, B-3, C-1. Goblet cells (secrete mucus) and plasma cells (secrete antibodies). Liver hepatocytes and steroid-hormoneproducing cells of the adrenal cortex. I-cell disease. Chdiak-Higashi syndrome. Paclitaxel. Griseofulvin. Mebendazole and thiabendazole. Kartagener's syndrome. Microtubule. Intermediate filaments. It increases cardiac contractility by increasing intracellular calcium concentration.

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44. 45.

A-4, B-1, C-2, D-3. Scurvy; the limes supplied the sailors with the vitamin C they needed during their long voyage (and earned them the nickname "limeys"). Osteogenesis imperfecta. Ehlers-Danlos syndrome. Blue sclerae. Both are diseases of type IV collagen. (Alport's is genetic; Goodpasture's is autoimmune.) Fibrillin. Emphysema. (1-Antitrypsin inhibits elastase, which degrades elastin; therefore, lack of 1antitrypsin can lead to loss of elastin in the lungs, thereby resulting in emphysema.)

46. 47. 48. 49. 50. 51.

LABORATORY TECHNIQUES
52. 53. 54. ATAGTACCG; GTGCTAGTC. A fragment of 10 kD; smaller molecules travel further. Southern: DNA is run on an electrophoresis gel and transferred to a filter; the DNA on the filter is denatured and exposed to a labeled DNA probe; the double-stranded DNA is visualized when the filter is exposed to film. Northern: RNA is run on an electrophoresis gel and transferred to a filter; the RNA on the filter is exposed to a labeled DNA probe; the hybrid DNA-RNA molecule is visualized when the filter is exposed to film. Western: Sample protein is separated via gel electrophoresis and transferred to a filter; labeled antibody is used to bind the protein of interest. 55. 56. Microarrays. An ELISA using a test antibody can determine whether a particular antigen is present in the patient's blood. FISH allows for identification of anomalies at a molecular level, including deletions that are too small to see on a karyotype. Sequencing. Autosomal trisomies, microdeletions, and sex chromosome disorders.

57.

58. 59.

GENETICS
60. Heterozygosity. (The patient had been a heterozygote for lost tumor suppressor gene; both genes must be lost for oncogenesis.) Locus heterogeneity. Copyright 2011 by MedIQ Learning, LLC All rights reserved

61.

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62. 63.

2pq. Prader-Willi syndrome is inherited via deactivation of the paternal copies of genes on chromosome 15, or can occur via uniparental disomy. Symptoms include mental retardation, hyperphagia, obesity, hypogonadism, and hypotonia. Angelmans syndrome is inherited via deactivation of the maternal copies of genes on chromosome 15, or can occur via uniparental disomy. Symptoms include mental retardation, seizures, ataxia, and inappropriate laughter (happy puppet). A-5, B-1, C-2, D-3, E-4. 50%. False. (Her sons and daughters may be affected.) Fibroblast growth factor 3. Dominant; recessive. Arteriovenous malformations. (This constellation of symptoms is typical of hereditary hemorrhagic telangiectasia.) Refractory hereditary spherocytosis can be cured by splenectomy. Marfan's syndrome. (It is associated with cystic medial necrosis of the aorta [which may lead to a dissection] as well as a floppy mitral valve prone to prolapse.) von Hippel-Lindau disease. Although both will have renal cysts, tuberous sclerosis is associated with renal angiomyolipomas. The patient has classic symptoms of Huntingtons disease, which is caused by an expansion of CAG trinucleotide repeats on chromosome 4. CF is due to a defect in the CFTR gene on chromosome 7 that affects the chloride channel. Pseudomonas species and Staphylococcus aureus. Vitamins A, D, E, and K (all of which are fat soluble). Gowers maneuver. (This action is necessary due to weakness of the proximal muscles.) Fragile X syndrome. (Remember: Fragile X = eXtra large testes, jaw, and ears.) Duodenal atresia.

64.

65. 66. 67. 68. 69. 70.

71. 72.

73. 74. 75.

76. 77. 78. 79. 80. 81.

NUTRITION
82. 83. A-10, B-5, C-8, D-1, E-7, F-6, G-12, H-13, I-11, J-2, K-9, L-3, M-4. Osteomalacia.

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METABOLISM
84.

85. 86.

A-10, B-7, C-3, D-4, E-1, F-9, G-13, H-5, I-8, J-6, K-11, L-12, M-2. Aerobic glucose metabolism produces 32 ATP molecules per molecule of glucose in heart and liver and 30 in muscle. Anaerobic glucose metabolism products only 2 net ATP molecules per molecule of glucose.

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87.

88.

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89. 90.

Ceramide trihexoside.

Disease Fabrys disease Gauchers disease Hunters syndrome Hurlers syndrome Krabbes disease Metachromatic leukodystrophy Niemann-Pick disease Tay-Sachs disease

Deficient Enzyme -galactosidase A -glucocerebrosiderase Iduronate sulfatase -L-iduronidase Galactocerebrosidase Arylsulfatase A Sphingomyelinase Hexosaminidase A

Accumulated Substance(s) Ceramide trihexoside Glucocereboside Heparan sulfate, dermatan sulfate Heparan sulfate, dermatan sulfate Galactocerebroside Cerebroside sulfate Sphingomyelin GM2 ganglioside

91. 92. 93.

Autosomal-recessive; Hunter's disease. Autosomal-recessive; Fabry's disease. A-1, B-4, C-5, D-3, E-2.

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