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Lesch-Nyhan Syndrome

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Lesch-Nyhan syndrome is an X-linked recessive disorder caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HGPRT). 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 and a deficiency causes buildup of uric acid in the body. Therefore, individuals with Lesch-Nyhan syndrome suffer from severe gout and display neurological signs including moderate mental retardation. A particularly striking feature of Lesch-Nyhan syndrome is self-mutilation, commonly manifested by lip and finger biting. Other neurological symptoms include choreoathetosis and facial grimacing. 
10 KEY FACTS
X-linked Recessive
X-suit with Recessive-chocolate

This disease is inherited in an X linked recessive pattern.

Absence of HGPRT
Anti-sign on HGPRT-curtain

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.

Hypoxanthine to IMP
Hippo-xylophone Connected to IMP

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

Guanine to GMP
Guano to GiMP

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

Excess uric acid
Unicorn Acidic-lemon

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

Gout
Gout-goat

Gout is caused by excess uric acid and is commonly seen in Lesch-Nyhan syndrome.

Retardation
Read-tarred book

Individuals with Lesch-Nyhan syndrome display significantly impaired cognitive functioning with deficits in two or more adaptive behaviors.

Self-mutilation
Self-hitting

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

Choreoathetosis
Korean-Thor

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

PRPP is increased
PRePPy-boy

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

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