In lesch nyhan syndrome (Hgprtase def.)

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In lesch nyhan syndrome (Hgprtase def.)

How is it leading to MEGALOBLASTIC ANEMIA?

PURINE accumulates in this disorder…

Or its decrease??

The reasons for macrocytosis in Lesch- Nyhan syndrome (LND) is thought to be due to a disorder in DNA synthesis. Purines in bone marrow cells are heavily dependent on recycling via HGprt because of an inherently low capacity for de novo purine synthesis, and this is disrupted in LND, leading to macrocytosis. Another suggested theory is that the microtubular cytoskeleton might be disrupted due to GTP deficiency, leading to abnormally shaped erythrocytes.

Macrocytosis in LND does not appear to respond to Vitamin B12 or folate supplementation.

Thank you.