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Related Experiment Video

Updated: Jun 28, 2026

Real-Time Fluorescent Measurement of Synaptic Functions in Models of Amyotrophic Lateral Sclerosis

Real-Time Fluorescent Measurement of Synaptic Functions in Models of Amyotrophic Lateral Sclerosis

Published on: July 16, 2021

Lesch-Nyhan syndrome: a case report.

A Kale¹, K Shah, S Hallikerimath

¹Department of Oral and Maxillofacial Pathology, KLE Dental College and Hospital, Belgaum, Karnataka, India.

Journal of the Indian Society of Pedodontics and Preventive Dentistry

|December 17, 2008

Summary

Lesch-Nyhan syndrome is a rare metabolic disorder causing self-harm due to a deficiency in hypoxanthine phosphoribosyltransferase. Dental intervention is the only current approach to manage the self-mutilation symptoms in affected individuals.

Related Experiment Videos

Last Updated: Jun 28, 2026

Real-Time Fluorescent Measurement of Synaptic Functions in Models of Amyotrophic Lateral Sclerosis

Real-Time Fluorescent Measurement of Synaptic Functions in Models of Amyotrophic Lateral Sclerosis

Published on: July 16, 2021

Area of Science:

Biochemistry
Genetics
Metabolic Disorders

Background:

Lesch-Nyhan syndrome is a rare X-linked recessive disorder.
It stems from a deficiency in the enzyme hypoxanthine phosphoribosyltransferase (HPRT).
This deficiency leads to overproduction of purines and hyperuricemia.

Observation:

The case involves a 6-year-old male child.
The patient exhibits characteristic self-destructive behaviors, including biting and scratching.
Mental retardation is also a noted feature.

Findings:

The study highlights the severe self-mutilation associated with Lesch-Nyhan syndrome.
It emphasizes the lack of effective medical treatments for managing these behaviors.
Direct dental intervention is presented as a primary method to mitigate self-injury.

Implications:

This case underscores the challenges in managing Lesch-Nyhan syndrome.
It points to the critical role of dental interventions in patient care.
Further research into therapeutic strategies for HPRT deficiency is warranted.