Lesch-Nyhan Syndrome Information Page

Lesch-Nyhan Syndrome Information Page


Search Disorders

What research is being done?

The gene associated with LNS is known.  The NINDS supports and conducts research on genetic disorders such as LNS in an effort to find ways to prevent and treat these disorders.

Information from the National Library of Medicine’s MedlinePlus
Metabolic Disorders

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What research is being done?

The gene associated with LNS is known.  The NINDS supports and conducts research on genetic disorders such as LNS in an effort to find ways to prevent and treat these disorders.

Information from the National Library of Medicine’s MedlinePlus
Metabolic Disorders

The gene associated with LNS is known.  The NINDS supports and conducts research on genetic disorders such as LNS in an effort to find ways to prevent and treat these disorders.

Information from the National Library of Medicine’s MedlinePlus
Metabolic Disorders


Definition
Definition
Treatment
Treatment
Prognosis
Prognosis
Clinical Trials
Clinical Trials
Organizations
Organizations
Publications
Publications
Definition
Definition

Lesch-Nyhan syndrome (LNS) is a rare, inherited disorder caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT). LNS is an X-linked recessive disease-- the gene is carried by the mother and passed on to her son.  LNS is present at birth in baby boys.  The lack of HPRT causes a build-up of uric acid in all body fluids, and leads to symptoms such as severe gout, poor muscle control, and moderate retardation, which appear in the first year of life.  A striking feature of LNS is self-mutilating behaviors – characterized by lip and finger biting – that begin in the second year of life.  Abnormally high uric acid levels can cause sodium urate crystals to form in the joints, kidneys, central nervous system, and other tissues of the body, leading to gout-like swelling in the joints and severe kidney problems.   Neurological symptoms include facial grimacing, involuntary writhing, and repetitive movements of the arms and legs similar to those seen in Huntington’s disease.  Because a lack of HPRT causes the body to poorly utilize vitamin B12, some boys may develop a rare disorder called megaloblastic anemia.

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Definition

Lesch-Nyhan syndrome (LNS) is a rare, inherited disorder caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT). LNS is an X-linked recessive disease-- the gene is carried by the mother and passed on to her son.  LNS is present at birth in baby boys.  The lack of HPRT causes a build-up of uric acid in all body fluids, and leads to symptoms such as severe gout, poor muscle control, and moderate retardation, which appear in the first year of life.  A striking feature of LNS is self-mutilating behaviors – characterized by lip and finger biting – that begin in the second year of life.  Abnormally high uric acid levels can cause sodium urate crystals to form in the joints, kidneys, central nervous system, and other tissues of the body, leading to gout-like swelling in the joints and severe kidney problems.   Neurological symptoms include facial grimacing, involuntary writhing, and repetitive movements of the arms and legs similar to those seen in Huntington’s disease.  Because a lack of HPRT causes the body to poorly utilize vitamin B12, some boys may develop a rare disorder called megaloblastic anemia.

Treatment
Treatment

Treatment for LNS is symptomatic.  Gout can be treated with allopurinol to control excessive amounts of uric acid.  Kidney stones may be treated with lithotripsy, a technique for breaking up kidney stones using shock waves or laser beams.  There is no standard treatment for the neurological symptoms of LNS.  Some may be relieved with the drugs carbidopa/levodopa, diazepam, phenobarbital, or haloperidol.

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Treatment

Treatment for LNS is symptomatic.  Gout can be treated with allopurinol to control excessive amounts of uric acid.  Kidney stones may be treated with lithotripsy, a technique for breaking up kidney stones using shock waves or laser beams.  There is no standard treatment for the neurological symptoms of LNS.  Some may be relieved with the drugs carbidopa/levodopa, diazepam, phenobarbital, or haloperidol.

Definition
Definition

Lesch-Nyhan syndrome (LNS) is a rare, inherited disorder caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT). LNS is an X-linked recessive disease-- the gene is carried by the mother and passed on to her son.  LNS is present at birth in baby boys.  The lack of HPRT causes a build-up of uric acid in all body fluids, and leads to symptoms such as severe gout, poor muscle control, and moderate retardation, which appear in the first year of life.  A striking feature of LNS is self-mutilating behaviors – characterized by lip and finger biting – that begin in the second year of life.  Abnormally high uric acid levels can cause sodium urate crystals to form in the joints, kidneys, central nervous system, and other tissues of the body, leading to gout-like swelling in the joints and severe kidney problems.   Neurological symptoms include facial grimacing, involuntary writhing, and repetitive movements of the arms and legs similar to those seen in Huntington’s disease.  Because a lack of HPRT causes the body to poorly utilize vitamin B12, some boys may develop a rare disorder called megaloblastic anemia.

Treatment
Treatment

Treatment for LNS is symptomatic.  Gout can be treated with allopurinol to control excessive amounts of uric acid.  Kidney stones may be treated with lithotripsy, a technique for breaking up kidney stones using shock waves or laser beams.  There is no standard treatment for the neurological symptoms of LNS.  Some may be relieved with the drugs carbidopa/levodopa, diazepam, phenobarbital, or haloperidol.

Prognosis
Prognosis

The prognosis for individuals with LNS is poor.  Death is usually due to renal failure in the first or second decade of life. 

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The prognosis for individuals with LNS is poor.  Death is usually due to renal failure in the first or second decade of life. 

Prognosis
Prognosis

The prognosis for individuals with LNS is poor.  Death is usually due to renal failure in the first or second decade of life. 

Definition

Lesch-Nyhan syndrome (LNS) is a rare, inherited disorder caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT). LNS is an X-linked recessive disease-- the gene is carried by the mother and passed on to her son.  LNS is present at birth in baby boys.  The lack of HPRT causes a build-up of uric acid in all body fluids, and leads to symptoms such as severe gout, poor muscle control, and moderate retardation, which appear in the first year of life.  A striking feature of LNS is self-mutilating behaviors – characterized by lip and finger biting – that begin in the second year of life.  Abnormally high uric acid levels can cause sodium urate crystals to form in the joints, kidneys, central nervous system, and other tissues of the body, leading to gout-like swelling in the joints and severe kidney problems.   Neurological symptoms include facial grimacing, involuntary writhing, and repetitive movements of the arms and legs similar to those seen in Huntington’s disease.  Because a lack of HPRT causes the body to poorly utilize vitamin B12, some boys may develop a rare disorder called megaloblastic anemia.

Treatment

Treatment for LNS is symptomatic.  Gout can be treated with allopurinol to control excessive amounts of uric acid.  Kidney stones may be treated with lithotripsy, a technique for breaking up kidney stones using shock waves or laser beams.  There is no standard treatment for the neurological symptoms of LNS.  Some may be relieved with the drugs carbidopa/levodopa, diazepam, phenobarbital, or haloperidol.

Prognosis

The prognosis for individuals with LNS is poor.  Death is usually due to renal failure in the first or second decade of life. 

What research is being done?

The gene associated with LNS is known.  The NINDS supports and conducts research on genetic disorders such as LNS in an effort to find ways to prevent and treat these disorders.

Information from the National Library of Medicine’s MedlinePlus
Metabolic Disorders

Patient Organizations
National Organization for Rare Disorders (NORD)
55 Kenosia Avenue
Danbury
CT
Danbury, CT 06810
Tel: 203-744-0100; Voice Mail: 800-999-NORD (6673)
Purine Research Society
5424 Beech Avenue
Bethesda
MD
Bethesda, MD 20814-1730
Tel: 301-530-0354