16 yo presents with: -Six month history of buring, tingling pain in hands and feet -angiokeratomas -corneal opacities -mild cardiomegaly/renomegaly -no hepatosplenomegaly He has two older sisters who both have sons who have the disease. 1. What is likely diagnosis and why?

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The General Principles section of the USMLE covers these topics:
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1. 16 yo presents with: -Six month history of buring, tingling pain in hands and feet -angiokeratomas -corneal opacities -mild cardiomegaly/renomegaly -no hepatosplenomegaly He has two older sisters who both have sons who have the disease. 1. What is likely diagnosis and why?

1. Increased FSH: Turners is associated with ovarian dysgenisis and reduced production of estrogens and inhibins. Low estrogen = inc LH/FSH production.
Is when a plasmid DNA is transferred to a new bacterium but the DNA is incorporated into the nucleus instead of being stored as plasmid.
1. Fabry disease: Has features: -Burning hand sensations -Raised reddish purple blemishs on skin = angiokeratoma -corneal opacity -X linked recessive as seen by his sisters having sons who have disease. Fabry disease is a glycopshingolipid metabolism pathology.
1. Disease causing acedemia due to enzyme deficiency causing decreased ability to make pyrimidines. 2. Megaloblastosis, hypochromic anemia, urinalsyis with white, needle shaped crystals. 3. Orotic acid is an intermediate in pyrimidine synthesis. UMP syntahse is not functioning = dec pyrmidine = inc in orotic acid. 4. Give Uridine

16 yo presents with: -Six month history of buring, tingling pain in hands and feet -angiokeratomas -corneal opacities -mild cardiomegaly/renomegaly -no hepatosplenomegaly He has two older sisters who both have sons who have the disease. 1. What is likely diagnosis and why?

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16 yo presents with: -Six month history of buring, tingling pain in hands and feet -angiokeratomas -corneal opacities -mild cardiomegaly/renomegaly -no hepatosplenomegaly He has two older sisters who both have sons who have the disease. 1. What is likely diagnosis and why?

❤ If you liked Fatskills, consider supporting us by checking out The Life Manuals You Never Got.

About | Explore | User Guide | Topics | Subjects | Doubt Solver | Career Aptitude Test | Answers | Free Tools | What Should We Know? Privacy | Terms |

Without work one finishes nothing. - Ralph Waldo Emerson© 2026 Fatskills.com

All trademarks, logos and brand names are the property of their respective owners. All company, product and service names used in this website are for identification purposes only. Use of these names, trademarks and brands does not imply endorsement.

About | Explore | User Guide | Topics | Subjects | Doubt Solver | Career Aptitude Test | Answers | Free Tools | What Should We Know?
Privacy | Terms |

Without work one finishes nothing. - Ralph Waldo Emerson
© 2026 Fatskills.com