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6 Cards in this Set

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severe combined (T- cell and B-cell) immunodeficiency (SCID) can be caused by a deficiency of
adenosine deaminase (ADA)

ADA deficiency --> ↑ ATP and ↑ dATP --> feedback inhibition of ribonucleotide reducatase --> ↓ DNA synthesis --> ↓ lymphocyte count
function of adenosine deaminase (ADA)
adenosine --> inosine
Lesch-Nyhan syndrome is due to a deficiency of
hypoxanthine-guanine phosphoribosyl transferase (HGPRTase)
functions of HGPRTase (2)
hypoxanthine --> IMP

guanine --> GMP
Lesch-Nyhan:

MOI
XLR
disease:

hyperuricemia
retardation
self-mutilation (lips)
aggression
gout
choreoathetosis
Lesch-Nyhan syndrome

Lacks
Nucleotide (purine)
Salvage