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USMLE step 1 – biochemistry Exam Study Guide Solutions

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USMLE step 1 – biochemistry Exam Study Guide Solutions infant with somnolence, vomiting, cerebral edema, decreased BUN, hyperammonemia - ANSWER- ornithine transcarbamoylase deficiency infantile cataracts, doesn't track objects, absent social smile - ANSWER-galactokinase deficiency infantile ...

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  • October 31, 2024
  • 18
  • 2024/2025
  • Exam (elaborations)
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USMLE step 1 – biochemistry Exam Study

Guide Solutions


infant with somnolence, vomiting, cerebral edema, decreased BUN, hyperammonemia - ANSWER✔✔-

ornithine transcarbamoylase deficiency


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


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


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


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


3) mosaic trisomy 21


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


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


actulose (acidify GI tract, trap NH4 for excretion)




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

cycle


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


metachromatic leukodystrophy (enzyme, accumulated substance) - ANSWER✔✔-arylsulfatase,

cerebroside sulfate


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


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


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


niemann-pick - ANSWER✔✔-sphingomyelinase, sphingomyelin


hepatosplenomegaly, aseptic necrosis of femur, bone crises, macrophages that look like crumpled tissue

paper - ANSWER✔✔-Gaucher's sphingolipidosis (glucocerebroside accumulation)


cherry macula, neurodegeneration, foam cells, hepatomegaly - ANSWER✔✔-niemann-pick

(sphyngomyelin)


cherry macula, neurodegenration, lysosomes with onion skin, NO hepatisplenomegaly - ANSWER✔✔-

tay-sachs (GM2 ganglioside)


causes of albinism - ANSWER✔✔-tyrosine transporter defect

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tyrosine hydroxylase deficiency


lack of migration of neural crest cells (melanocytes)


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


sacral spinal cord (S2-S4)


where do preganglionic sympathetic neurons originate? - ANSWER✔✔-thoracolumbar spinal cord (T1-

L3)


arginine derivatives - ANSWER✔✔-creatine


urea (urea cycle intermediate)


NO


glutamate derivatives - ANSWER✔✔-GABA


glutathione


snRNPs - ANSWER✔✔-combine with pre-mRNA in nucleus to form spliceosome to remove introns


what must happen in the nucleus so that 7-methylguanosine can be added to RNA in the cytosol? -

ANSWER✔✔-5' capping


what is the purpose of the mRNA 3' poly-A tail? - ANSWER✔✔-export of mRNA from the nucleus

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