Lesch-Nyhan (LNS) Syndrome Specimens

Bay Biosciences provides high-quality, matched fresh frozen sera (serum),  plasma, and peripheral blood mononuclear cells (PBMC) bio-fluids from patients diagnosed with Lesch-Nyhan disease.

Moreover, the sera (serum), plasma and PBMC bio-fluids are processed from Lesch-Nyhan disease patient’s peripheral whole-blood using customized collection and processing protocols.

In addition, the matched bio-fluids are collected from unique patients with Lesch-Nyhan disease. and are provided to a valued pharmaceutical customer for research, development and drug discovery.

Lesch-Nyhan Disease Overview

Lesch–Nyhan Syndrome (LNS) is a rare inherited disorder caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyl transferase (HPRT).

Moreover, LNS is a rare genetic disorder. It occurs most often in male patients and it leads to an overproduction of uric acid (a waste product in the bloodstream.  Furthermore, this can, in turn, lead to the development of  gouty arthritis as well as bladder and kidney stones. In addition, this deficiency occurs due to mutations in the HPRT1 gene located on the X chromosome.

Neurological Symptoms

The Lesch-Nyhan disease also manifests as a range of neurological symptoms. Including abnormal involuntary muscle movements, with most with this condition being unable to walk. Self-injury behaviors such as head banging and nail-biting are also commonly seen.

The HPRT deficiency causes a build-up of uric acid in all body fluids. The combination of increased synthesis and decreased utilization of purines. Which, leads to high levels of uric acid production. This results in both high levels of uric acid in the blood and urine. Consequently, which is associated with severe gout and kidney problems.

Poor Muscle Control

Neurological signs include poor muscle control and moderate intellectual disability. These complications usually appear in the first year of life. Beginning in the second year of life, a particularly striking feature of LNS is self mutilating behavior, characterized by lip and finger biting. Neurological symptoms include facial grimacing, involuntary writhing, and repetitive movements of the arms and legs similar to those seen in Huntington’s disease. The cause of the neurological abnormalities remains unknown. Because a lack of HPRT causes the body to poorly utilize vitamin B-12 , some male patients may develop megaloblastic anemia.

Gene Mutation

Lesch-Nyhan Syndrome (LNS) is inherited in an X-linked recessive manner, the gene mutation is usually carried by the mother and passed on to her son, although one-third of all cases arise de novo (from new mutations) and do not have a family history. LNS is present at birth in baby boys. Most, but not all, persons with this deficiency have severe mental and physical problems throughout life. There are a few rare cases in the world of affected females.

The symptoms caused by the buildup of uric acid, gout and kidney symptoms respond well to treatment with medications that reduce the levels of uric acid in the blood. The mental deficits and self-mutilating behavior do not respond well to treatment. There is no cure, but many affected people live to adulthood. Several new experimental treatments may alleviate symptoms.

 

Lesch-Nyhan Syndrome (LNS) Symptoms

Signs and symptoms of Lesch-Nyhan Syndrome (LNS) are usually first seen when a child is as young as six months old, and female carriers tend to not display symptoms. These include:

  • Behavioral Abnormalities: Some children with the condition may find it difficult to control behaviors and are prone to screaming and irritability.
  • Cartilage Deposits: Older children with the disorder often have uric deposits that collect in cartilage. When these cause bulges in the ears, the condition is called tophi.
  • Chorea: Another issue that arises is chorea, involuntary, purposeless, and repetitive body movements. These can include grimacing, shoulder raising and lowering, as well as finger flexing.
  • Development Delay: Infants and toddlers with the condition may also experience delayed developmental milestones, such as sitting up, crawling, and walking.
  • Dysphagia: Children and infants often also have dysphagia, defined as an inability to swallow effectively.
  • Dystonia: Many of those with this condition experience dystonia, characterized by involuntary writhing in the arms and legs.
  • Dysarthia: The ability to articulate speech and pronounce words, dysarthia is also a common hallmark.
  • Hypertonia: Children with this condition may develop hypertonia, defined as over-developed musculature. Often, this is paired with spasticity increased rigidity of muscles.

Additional Symptoms

  • Hypotonia: In infants, Lesch-Nyhan syndrome can lead to under-development of certain muscle groups, sometimes leading to an inability to hold the head up.
  • Muscle spasm: Lesch-Nyhan syndrome is often characterized by strong muscle spasms that lead to severe arching of the back. The head and heels in these cases can also bend backward.
  • Orange sand: In infants with the condition, the excess production of uric acid can lead to orange deposits often called “orange sand” in the diapers.
  • Pain and swelling in the joints: In teens and adults, urate crystals can form in the joints of untreated individuals, leading to gout-like Pain and swelling.
  • Self-Mutilation: Majority of Lesch-Nyhan Syndrome (LNS) patients display self-mutilating behaviors, such as compulsive lip, hand, or finger biting as well as head banging. These symptoms typically arise between the ages of two and three.
  • Spasticity: Rigidity of the tendons, termed hyperreflexia, is also seen in these cases.
  • Intellectual disability: Moderate intellectual disability often occurs with this condition, though many with it do not display this symptom.
  • Urate stones: Infants may also develop kidney stones, which can lead to blood in the urine and raises the risk of urinary tract Infections.

 

Lesch-Nyhan Syndrome (LNS) Causes

Lesch-Nyhan Syndrome (LNS) is caused by a mutation of the HPRT1 gene, which hinders the production of the HPRT enzyme. This enzyme plays the important role of recycling purines, which are constituent elements of the body’s genetic material. The build-up of uric acid in the body, then, is a result of insufficient levels of HPRT.

Researchers believe that low levels of the brain chemical, dopamine, cause the neurological effects of this condition.

The condition follows what’s called an X-linked inheritance pattern. This means that mutations occur in the X chromosome, one of the two  chromosomes that determine sex. Women, who have two X chromosomes, display Lesch-Nyhan syndrome when both have this mutation; this is why this condition is rarer among females. On the other hand, men who have an X and a Y chromosome will have symptoms when the X chromosome has this mutation. 

Lesch-Nyhan Syndrome (LNS) Diagnosis

Since an elevated level of uric acid in the blood is a hallmark of the disease , blood testing can identify Lesch-Nyhan syndrome. Specifically, the absence of HPRT in tissues will confirm diagnosis. Genetic testing can also help determine carriers by testing expectant parents for mutations of the HPRT1 gene. In addition, a method called enzyme analysis can measure levels of enzymes prenatally.

Biospecimens

Bay Biosciences is, indeed a global leader in providing researchers with high quality, clinical grade, fully characterized human tissue samples, bio-specimens, and human bio-fluid collections.

Specifically, aamples available include cancer (tumor) tissue, cancer serum, cancer plasma, cancer, peripheral blood mononuclear cells (PBMC) and human tissue samples from most other therapeutic areas and diseases.

Moreover, Bay Biosciences maintains and manages its own biorepository, the human tissue bank (biobank) consisting of thousands of diseased samples (specimens) and from normal healthy donors available in all formats and types.

In fact, our biobank procures and stores fully consented, de-identified and institutional review boards (IRB) approved human tissue samples and matched controls.

Additionally, all our human tissue collections, human specimens and human bio-fluids are provided with detailed, samples associated patient’s clinical data.

In particular, critical patient’s clinical data includes information relating to their past and current disease, treatment history, lifestyle choices, biomarkers, and genetic information.

Moreover, researchers find patient’s data extremely valuable and use it to help identify new effective treatments (drug discovery & development) in oncology, and other therapeutic areas and diseases.

Specifically, Bay Biosciences banks wide variety of human tissue samples and biological samples, including cryogenically preserved at – 80°C.

For example fresh frozen tissue samples, tumor tissue samples, formalin-fixed paraffin-embedded (FFPE), tissue slides, with matching human bio-fluids, whole blood and blood-derived products such as serum, plasma and PBMC.

Furthermore, Bay Biosciences is a global leader in collecting and providing human tissue samples according to the specified requirements and customized, tailor-made collection protocols.

Therefore, please contact us anytime to discuss your special research projects and customized human tissue sample requirements.

Types of Biospecimens

Bay Biosciences provides human tissue samples (human specimens) from diseased and normal healthy donors which includes:

  • Firstly, Peripheral whole-blood
  • Secondly, Amniotic fluid
  • Third, Bronchoalveolar lavage fluid (BAL)
  • Moreover, Sputum
  • Furthermore, Pleural effusion
  • Next, Cerebrospinal fluid (CSF)
  • Also, Serum (sera)
  • Likewise, Plasma
  • In addition, Peripheral blood mononuclear cells (PBMC)
  • For example, Saliva
  • Also, Buffy coat
  • Moreover, Urine
  • Furthermore, stool samples
  • Next, Aqueous humor
  • Likewise, Vitreous humor
  • Lastly, Kidney stones (renal calculi)
  • Finally, Other bodily fluids from most diseases including cancer.

Moreover, we can also procure most human bio-specimens, furthermore; we offer special collections and requests for human samples that are difficult to find. All our human tissue samples are procured through IRB-approved clinical protocols and procedures.

In addition to the standard processing protocols, Bay Biosciences can also provide human plasma, serum, and PBMC bio-fluid samples using custom processing protocols. Additionally you buy donor-specific collections in higher volumes and specified sample aliquots from us.

Furthermore, Bay Biosciences also provides human samples from normal healthy donors; volunteers, for controls and clinical research, contact us Now.

 

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