Purine Salvage pathway and deficiencies | Molecular biology | Biochemistry | First Aid Lectures|Lec6
Channel: Dr. Jamil Lectures
Date: 2022-05-16

In this lecture we will discuss about purine salvage pathway,purine salvage deficiencies,adenosine deaminase deficiency ,Nesch- Nyan syndrome,HGPRT deficiency ,Gout and their treatment.


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Purine salvage pathway and deficiency
Adenosine deaminase deficiency
ADA is required for degradation of adenosine 
and deoxyadenosine.  ADA   dATP 
  ribonucleotide reductase activity 
 lymphotoxicity.
One of the major causes of autosomal recessive 
SCID.
Lesch-Nyhan syndrome
Defective purine salvage due to absent HGPRT, 
which converts hypoxanthine to IMP and 
guanine to GMP. Results in excess uric acid 
production and de novo purine synthesis. 
X-linked recessive.
Findings: intellectual disability, self-mutilation, 
aggression, hyperuricemia (orange “sand” 
[sodium urate crystals] in diaper), gout, 
dystonia, macrocytosis.
Treatment: allopurinol or febuxostat (2nd line).
HGPRT:
Hyperuricemia
Gout
Pissed off (aggression, self-mutilation)
Retardation (intellectual disability)
DysTonia




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