Summary about Disease
Lesch-Nyhan syndrome (LNS) is a rare, inherited metabolic disorder caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HGPRT). This deficiency leads to a build-up of uric acid in the body, and to severe neurological and behavioral problems. It primarily affects males.
Symptoms
Symptoms include:
Orange, sand-like crystals in the diaper early in infancy.
Involuntary muscle movements (dystonia, choreoathetosis, spasticity).
Cognitive impairment.
Self-injurious behaviors (biting, head banging)
Gout (joint pain and swelling due to uric acid crystals).
Kidney stones.
Causes
LNS is caused by mutations in the HPRT1 gene, located on the X chromosome. It is inherited in an X-linked recessive pattern, meaning that males are primarily affected because they have only one X chromosome. Females can be carriers of the mutated gene.
Medicine Used
Allopurinol: To reduce uric acid levels and prevent gout and kidney stones.
Medications to manage movement disorders: Such as baclofen, benzodiazepines, or trihexyphenidyl to reduce dystonia or spasticity.
Behavioral therapies and medications: To manage self-injurious behaviors. Antipsychotics and other psychotropic medications are often used.
Is Communicable
No, Lesch-Nyhan syndrome is not communicable. It is a genetic disorder, not an infectious disease.
Precautions
Genetic counseling for families with a history of LNS.
Protective measures to prevent self-injury (e.g., arm restraints, helmets).
Careful monitoring of uric acid levels and kidney function.
Early intervention and therapy to manage neurological and behavioral symptoms.
How long does an outbreak last?
Lesch-Nyhan Syndrome is not an outbreak related disease. It is a genetic condition that is lifelong.
How is it diagnosed?
Clinical evaluation: Based on symptoms and physical examination.
Uric acid levels: Elevated uric acid levels in blood and urine.
Enzyme assay: Measurement of HGPRT enzyme activity in red blood cells or other tissues (deficient or absent).
Genetic testing: Mutation analysis of the HPRT1 gene to confirm the diagnosis.
Timeline of Symptoms
Infancy: Orange crystals in diaper (uric acid).
3-6 months: Delayed motor development.
6 months - 1 year: Hypotonia followed by increased muscle tone and involuntary movements.
2-3 years: Self-injurious behaviors typically emerge.
Childhood/Adolescence: Progressive neurological and behavioral problems.
Important Considerations
LNS requires lifelong management and supportive care.
Prognosis varies, but most individuals with LNS have significant disabilities.
Early diagnosis and intervention can improve quality of life.
Family support and education are crucial.
Suicide is a risk in some patients, and mental health should be monitored.