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Medical Biochemistry > Biochemistry Diseases > Flashcards

Biochemistry Diseases Flashcards

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USMLE® Step 1 flashcards
1
Q

Orotic Aciduria

A

Pyr synthesis

UMP Synthase
Orotic acidUMP

AR

inc Orotic Acid in Urine

Megaloblastic Anemia
Failure to thrive

Oral uridine

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2
Q

Severe Combined Immunodeficiency Disease (SCID)

A

Purine salvage

Adenosine Deaminase
AdenosineInosine

AR

dec Lymphocytes

*Kids

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3
Q

Lesch-Nyhan Syndrome

A

Purine salvage

HGPRT
HypoxanthineIMP
GuanineGMP

XR

inc Uric Acid

Retardation
Self Mutilation (Gout)
Aggression
Choreoathetosis

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4
Q

Xeroderma Pigmentosum

A

DNA repair - NER

Sensitive to light

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5
Q

Hereditary Nonpolyposis Colorectal Cancer (HNPCC)

A

DNA repair- MMR

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6
Q

Ataxia Telangiectasia

A

DNA repair-Nonhomologous end joining

Ataxia- lack of voluntary muscle control
Telangiectasia- spider veins

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Medical Biochemistry (5 decks)

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