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Summary

Summary - USMLE - STEP 1
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  • USMLE - STEP 1

A well-organized summary of the key concepts in genetics, cell biology, biochemistry, immunology, cardiology, and psychiatry, written clearly and concisely. All are based on Boards and Beyond videos.

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Document information

  • December 24, 2023
  • 4
  • 2022/2023
  • Summary

Subjects

  • usmle
  • step 1
  • genetics
  • biochemistry
  • cell biology
  • immunology
  • cardiology
  • psychiatry

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  • USMLE - STEP 1
All documents for this subject (143)

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Lysosomal storage diseases - key points

In this diseases the problem has to do with sphingolipids. They are made up of: sphingosine and
fatty acid forming something callled ceramide. Each sphingolipid is different from one another bc a
modification of the head group on ceramides.

In general all lysosomal disease are automosal recessive, except from: fabry´s disease and hunter´s
syndrome. Also in general none lysosomal disease have a treatment except from: fabry´s disease
and gaucher´s disease.

FABRY´S DISEASE

Deficiency of alfa galactosidase A

Accumulation of ceramide trihexodise
Classic case child with pain in hands/feet (neuropathy)
lack of sweat
skin findings (angiokearatomas)



Other symptoms are:
— Angiokeratomas: red spots
— Renal disease: proteinuria, renal failure
— Cardiac disease: left ventricular hypertrophy, heart failure
— CNS problems: TIA/stroke at early age

GAUCHER´S DISEASE (most common lysosomal storage disease)

Deficiency of glucocerebrosidase

Accumulation of glucocerebroside
Classic case child of ashkenasi jewish descent
splenomegaly
anemia
brusing
joint pain/ fractures

Other symptoms: (lpids acummulate in spleen, liver and bones)
— Hepatosplenomegaly: most commn initial sign
— Bones: marrow (anemia and thrombocytopenia, easy brusing) and avascular necrosis on
joints
— Bone crisis: severe pain due to infarction, with fever.
— CNS: rare! dementia, ataxia.

# Macrophage (liver, spleen) filled with lipid: crinkled paper

There are 3 types: the most common one is type I (it has minimal CNS dysfrunction, and has
everything else). Type II and III are rare and has neurological deficit.

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