Master Lesch-Nyhan Syndrome with Picmonic for Medicine

This disease is inherited in an X-linked recessive pattern.

HGPRT is a transferase enzyme that catalyzes the conversion of hypoxanthine to inosine monophosphate (IMP) and guanine to guanosine monophosphate (GMP). This enzyme plays a key role in the purine salvage pathway.

HGPRT is a transferase enzyme that catalyzes the conversion of hypoxanthine to inosine monophosphate (IMP) in the purine salvage pathway.

HGPRT is a transferase enzyme that catalyzes the conversion of guanine to guanosine monophosphate (GMP) in the purine salvage pathway.

Phosphoribosyl pyrophosphate (PRPP) accumulates due to defective HGPRT and stimulates the de novo purine synthesis pathway.

Because the purine salvage pathway is defective, cell breakdown products cannot be reused and are instead degraded into uric acid.

Gout is caused by excess uric acid, leading to the deposition of urate crystals in joints, causing inflammation and pain. It is commonly seen in Lesch-Nyhan syndrome.

Individuals with Lesch-Nyhan syndrome exhibit severe cognitive impairment, often with deficits in adaptive behaviors such as communication and social skills. These deficits contribute to developmental delay.

A hallmark feature of Lesch-Nyhan syndrome is self-mutilation, commonly manifested by lip and finger biting.

Choreoatheotosis presents involuntary movements with features of chorea, which are irregular, dance-like movements, and athetosis, which is characterized by a twisting and writhing motion.

Allopurinol is a medication that inhibits xanthine oxidase. Because this enzyme is involved in uric acid production, allopurinol helps to manage hyperuricemia by decreasing uric acid.

Febuxostat is a xanthine oxidase inhibitor. Blocking xanthine oxidase reduces uric acid production. It serves as an alternative to allopurinol in managing hyperuricemia associated with Lesch-Nyhan syndrome.