Condition Info - BotMed Application

ConditionName

Lesch Nyhan Syndrome

ConditionDescription

Rare inborn error of purine metabolism characterized by the absence or deficiency of the activity of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT)

Symptoms

Orange colored deposits (“orange sand”) in the diapers of infants (3 m);
Irritability
Nervous system impairment:
4 to 6 months—lack of muscle tone and inability to lift the head;
6 months—unusual arching of the back;
9 months—inability to crawl or stand;
12 months—inability to walk;
12+ months—spasms of the limbs and facial muscles;
Delayed development;
Behavioral problems occur in all cases and self injury in about 85%;
Self-injurious behavior may include repeated biting of the lips, fingers, and/or hands, and repetitive banging of the head against hard objects. Some children may scratch their face repeatedly.
Pain and swelling of joints may become progressively more frequent once they begin;
Difficulty swallowing and vomiting;
Muscle spasm;
Blood in the urine from kidney stones;
Hematuria;
Learning disabilities;
Aggression;
Manipulative behavior;

PhysicalFindings

In older children: tophi in joints and in the ears (visible “bulges”);
Dystoma: tensing of muscles;
Spastic Cerebral Palsy: contraction of muscles;

ClinicalTests

Uric acid overproduction - not specific;
Reduced levels of the HPRT enzyme - diagnostic.

RiskFactors

Male > Female;
Family members with Lesch-Nyhan syndrome (on the mother's side);

IsRedFlag

IsNPLEX

Consequence

Gout/Arthritis;
Renal failure: kidney failure;
Puberty is delayed;
Testicular Atrophy: testes shrink;
Kidney/Bladder stones;
Delay in motor development;
Growth is delayed;
Increase the risk of UTI;

ProgressionFromCondition

HPRT1 gene mutation;

TreatmentOptions

PharmOptions

WebLink

https://rarediseases.org/rare-diseases/lesch-nyhan-syndrome/