Disorders associated with nucleotides metabolism Flashcards
1
Q
What is the difference between Hyperuricemia and Gout ?
A
- Hyperuricemia –caused if serum urate concentration
increased and exceeds urate solubility . - Gout means hyperuricemia and deposition of
Diseases associated with Purine Degradation
monosodium urate crystals in tissues.
2
Q
The hyperuricemia leads to the deposition of ?
A
monosodium urate crystals
3
Q
Nodular masses of monosodium urate crystals named ?
A
tophi
4
Q
What is the diagnosis of gout ?
A
requires aspiration and examination of synovial fluid
5
Q
What is the cause of Lesch-Nyhan syndrome ?
A
deficiency of HGPRT
6
Q
What is the results of deficiency of HGPRT ?
A
1- increased levels of PRPP
2- increased de novo synthesis of purine
7
Q
Lesch-Nyhan syndrome is an ?
A
X-linked recessive disorder
8
Q
Lesch-Nyhan syndrome is characterized by ?
A
self- mutilation
9
Q
ADA Deficiency it is ?
A
autosomal recessive disorder
10
Q
What is the first genetic disease successfully treated by gene therapy ?
A
ADA deficiency
