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USMLE step 1 - biochemistry Questions and Answers well Explained Latest 2024/2025 Update 100% Correct.
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what must happen in the nucleus so that 7-methylguanosine can be added to RNA in the cytosol? - 5' capping treatment of hyperammonemia (HCV, urea cycle deficiency) - limit protein in diet benzoate, phenylbutarate (bind a.a.'s, increased aa exretion) actulose (acidify GI tract, trap NH4 for excr...

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  • August 17, 2024
  • 13
  • 2024/2025
  • Exam (elaborations)
  • Questions & answers

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  • usmle step 1 biochemistry

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  • USMLE - biochemistry
  • USMLE - biochemistry

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USMLE step 1 - biochemistry
what must happen in the nucleus so that 7-methylguanosine can be added to RNA in the cytosol? -
5' capping



treatment of hyperammonemia (HCV, urea cycle deficiency) - limit protein in diet

benzoate, phenylbutarate (bind a.a.'s, increased aa exretion)

actulose (acidify GI tract, trap NH4 for excretion)



infant with somnolence, vomiting, cerebral edema, decreased BUN, hyperammonemia - ornithine
transcarbamoylase deficiency



infantile cataracts, doesn't track objects, absent social smile - galactokinase deficiency



infantile cataracts, hepatomegaly, jaundice, failure to thrive - uridyltransferase deficiency



causes of Down syndrome - 1) meiotic nondisjunction (95%)

2) unbalanced robertsonian translocation (extra arm on Ch 21)

3) mosaic trisomy 21



effect of hyperammonemia on metabolism - decreased alpha ketoglutarate, inhibiting TCA cycle



Tay-Sach's (enzyme, accumulated substance) - hexosaminidase, GM2 ganglioside



metachromatic leukodystrophy (enzyme, accumulated substance) - arylsulfatase, cerebroside
sulfate



fabry's (enzyme, accumulated substance) - alpha-galactosidase, ceramide trihexoside

, krabbe's (enzyme, accumulated substance) - beta-galactocerebrosidase, galactocerebroside



gauche's (enzyme, accumulated substance) - glucocerebrosidase, glucocerebroside



niemann-pick - sphingomyelinase, sphingomyelin



hepatosplenomegaly, aseptic necrosis of femur, bone crises, macrophages that look like crumpled tissue
paper - Gaucher's sphingolipidosis (glucocerebroside accumulation)



cherry macula, neurodegeneration, foam cells, hepatomegaly - niemann-pick (sphyngomyelin)



cherry macula, neurodegenration, lysosomes with onion skin, NO hepatisplenomegaly - tay-sachs
(GM2 ganglioside)



causes of albinism - tyrosine transporter defect

tyrosine hydroxylase deficiency

lack of migration of neural crest cells (melanocytes)



where do preganglionic parasympathetic neurons originate? - nuclei of cranial nerves

sacral spinal cord (S2-S4)



where do preganglionic sympathetic neurons originate? - thoracolumbar spinal cord (T1-L3)



arginine derivatives - creatine

urea (urea cycle intermediate)

NO



glutamate derivatives - GABA

glutathione

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