Diseases resulting from defects in purine

1
Diseases resulting from defects in
purine Nucleotides salvage and degradation
Lesch-Nyhan syndrome
- Hypoxanthine Guanine Phosphoribosyl transferase
defect
- Accumulation of PRPP stimulates de novo purine
synthesis
- Gout results from accumulation of uric acid in
joints
- Gout is efficiently treated using xanthine
oxydase inhibitors
O
O
N7
HN1
HN1
N8
allopurinol
N9
N9
N
N
O
H
H
alloxanthine
hypoxanthine
HN1
N8
xanthine
N9
N
O
H
H
Uric acid
Uric acid
- Neurological problems Cause unknown - no
effective treatment
SCID (severe combined immunodeficiency)
Adenosine deaminase defect
The accumulation of excess adenosine nucleotides
interferes with the proliferation of
T-lymphocytes Therapies - Bone marrow
transplant - Intraveinous administration of Ada
coupled to PEG - Gene therapy