Is there a cure for Lesch-Nyhan syndrome?

No specific treatment exists for Lesch-Nyhan syndrome. Medicine for treating gout can lower uric acid levels. However, treatment does not improve the nervous system outcome (for example, having increased reflexes and spasms).

What are the symptoms of Lesch-Nyhan syndrome?

The symptoms of Lesch-Nyhan syndrome include impaired kidney function, acute gouty arthritis, and self-mutilating behaviors such as lip and finger biting and/or head banging. Additional symptoms include involuntary muscle movements, and neurological impairment.

What causes Lesch-Nyhan syndrome?

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.

How does Lesch-Nyhan syndrome work?

HPRT1 gene mutations that cause Lesch-Nyhan syndrome result in a severe shortage (deficiency) or complete absence of hypoxanthine phosphoribosyltransferase 1. When this enzyme is lacking, purines are broken down but not recycled, producing abnormally high levels of uric acid.

How long do people live with Lesch-Nyhan syndrome?

With optimal medical care, individuals with Lesch-Nyhan disease typically live into their third or even fourth decade of life. Few patients live beyond 40 years.

Can people with Lesch-Nyhan syndrome speak?

Dysarthia: The ability to articulate speech and pronounce words—dysarthia—is also a common hallmark. Self-Mutilation: Approximately 85% of those with Lesch-Nyhan syndrome display self-mutilating behaviors, such as compulsive lip, hand, or finger biting as well as head banging.

Why does Lesch-Nyhan syndrome cause self mutilation?

Serotonin, also a neurotransmitter, has been shown to be regulated by dopamine release in presynaptic channels, and depletion of serotonin will result in high-frequency stimulation, which is seen in Lesch-Nyhan patients. One of the most striking features of LNS is self-mutilative behavior.

What is Farber’s disease?

Definition. Farber’s disease, also known as Farber’s lipogranulomatosis, describes a group of inherited metabolic disorders called lipid storage diseases, in which excess amounts of lipids (oils, fatty acids, and related compounds) build up to harmful levels in the joints, tissues, and central nervous system.

What is compulsive self mutilation?

The compulsive self-injurious behavior is only shown in patients with complete enzyme (HPRT) defect and some never show autodestructive behavior. The self-injurious behavior usually begins with self-biting at 1 year or may be delayed until teens, resulting in loss of tissue from various sites on the body.

What is mps3a disease?

Mucopolysaccaridosis type III (MPS III) is a rare genetic condition that causes fatal brain damage. It is also known as Sanfilippo syndrome and is a type of childhood dementia. MPS III is caused by a lack of an enzyme that normally breaks down and recycles a large, complex sugar molecule called ‘heparan sulphate’.

What is Gierke’s disease?

Von Gierke disease is a condition in which the body cannot break down glycogen. Glycogen is a form of sugar (glucose) that is stored in the liver and muscles. It is normally broken down into glucose to give you more energy when you need it. Von Gierke disease is also called Type I glycogen storage disease (GSD I).

What is Faber syndrome?

Farber’s disease, also known as Farber’s lipogranulomatosis, describes a group of inherited metabolic disorders called lipid storage diseases, in which excess amounts of lipids (oils, fatty acids, and related compounds) build up to harmful levels in the joints, tissues, and central nervous system.