Purine Salvage Deficiencies

Question 1

One the major cause of autosomal recessive SCID

Answer 1

Adenosine Deaminase Deficiency

ADA - required for degradation of adenosine and deoxyadenosine

DECREASED ADA –> INCREASED dATP –> DECREASED ribonucleotide reductase activity –> LYMPHOTOXICITY

Question 2

Defective purine salvage d.t. ABSENT HGPRT - converts hypoxanthine to IMP and guanine to GMP

Answer 2

LESCH-NYHAN SYNDROME

hyperuricemia (orange "sand" sodium urate crystals in diaper
gout
pissed off (aggression, mutilation)
retardation (intellectual disability)
dystonia
macrocytosis

Question 3

Treatment for Lesch Nyhan Syndrome

Answer 3

ALLOPURINOL

FEBUXOSTAT