Nucleotides

Question 1

[Met/NT/Purine/LND]

Disease category Lesch-Nyhan belongs to and involved pathway?

Answer 1

HPRT1 disorders
- Lesch-Nyhan disease: severe
- HRPT1-related neurologic dysfunction: intermediate
- HPRT1related hyperuricemia: mild
Purine pathway

Question 2

[Met/NT/Purine/LND]

Clinical characteristics of Lesch-Nyhan disease (LND) in HPRT1 disorders?

Answer 2

Severe form
Severe cerebral palsy, intellectual disability
Self-injurious behavior
Hyperuricemia: gouty arthritis, nephropathy, tophi

Question 3

[Met/NT/Purine/HND]

Clinical characteristics of HPRT1-related neurologic
dysfunction (HND) in HPRT1 disorders?

Answer 3

Intermediate form
Fewer severe neurologic findings than Lesch-Nyhan
No self-injurious behavior
Hyperuricemia: gouty arthritis, nephropathy, tophi

Question 4

[Met/NT/Purine/HRH]

Clinical characteristics of HPRT1-related hyperuricemia (HRH) in HPRT1 disorders?

Answer 4

Mild form
Without overt neurologic deficits
Hyperuricemia: gouty arthritis, nephropathy, tophi