Important biochem pathways and associated disorders Flashcards
1
Q
Draw out pyrimidine and purine synthesis
A
Page 512
2
Q
Orotic aciduria
A
AR
Increased orotic acid in urine
Does not cause hyperammonemia
Megaloblastic anemia – not corrected by giving B12 or folic acid
Tx: uridine supplement
High orotic acid, normal ammonia
3
Q
Ornithine thranscarbamylase deficiency
A
High orotic acid and high ammonia
4
Q
Draw out purine salvage pathway
A
Page 513
5
Q
Lesch-Nyhan syndrome
A
Deficient HGPRT (hypoxanthine, guanine phosphoribosal transferase)
All purines to uric acid
-> gout
CNS: intellectual disability, aggressive behavior, lip biting (self mutilate), movement disorders
X linked
Tx: allopurinol or febuxostate to block uric acid formation
-tx sx of gout
6
Q
Adenosine deaminase deficiency
A
Causes SCID
