Purine Salvage pathway and deficiencies | Molecular biology | Biochemistry | First Aid Lectures|Lec6

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.    • De novo pyrimidine and purine synthesis | ...      • Organization of DNA and chromatin structur...      • First aid lectures |Creative solutions for...   Instagram account Dr_jamil56 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 #drjamilectures #drjameellectures #usmlelectures #plablectures #nlelectures #firstaidlectures #biochemistrylectures #biochemistryfirstaidlectures #biochemistrylecturesinurduhindi #firstaidlecturesinurduhindi