1,412 results match your criteria Lesch-Nyhan Syndrome

Lesch-Nyhan syndrome due to a splice-site mutation in a 14-month-old boy presenting as acute renal failure.

Clin Nephrol 2021 May 17. Epub 2021 May 17.

Lesch-Nyhan disease (LND) is a rare X-linked recessive inherited disorder caused by mutations in gene resulting in deficiency of hypoxanthine-guanine phosphoribosyltransferase (HPRT). LND is characterized by hyperuricemia and a spectrum of neurological and behavioral manifestations. We describe a rare case of a 14-month-old boy presenting with acute renal failure and hyperuricemia. Read More

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Problems associated with antiviral drugs and vaccines development for COVID-19: approach to intervention using expression vectors via GPI anchor.

Khue Vu Nguyen

Nucleosides Nucleotides Nucleic Acids 2021 13;40(6):665-706. Epub 2021 May 13.

Department of Medicine, Biochemical Genetics and Metabolism, The Mitochondrial and Metabolic Disease Center, School of Medicine, University of California, San Diego, San Diego, CA, USA.

The outbreak of a novel coronavirus responsible for the severe acquired respiratory syndrome: SARS-CoV-2, also known as coronavirus disease 2019: COVID-19, represents a pandemic threat that has been declared a public health emergency of international concern. The CoV spike (S) glycoprotein is a key target for diagnostic, development of antibodies, entry inhibitors, and vaccines. COVID-19 also recognizes angiotensin-converting enzyme 2 (ACE2) as its host receptor binding to viral S protein. Read More

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Reduction of self-mutilating behavior and improved oromotor function in a patient with Lesch-Nyhan syndrome following botulinum toxin injection: A case report.

J Pediatr Rehabil Med 2021 ;14(1):133-136

Rutgers New Jersey Medical School, Department of Physical Medicine and Rehabilitation, Newark, NJ, USA.

Lesch-Nyhan syndrome is a genetic metabolic disorder often involving dystonia and self-mutilating behavior. This case report describes a 13-year-old boy with Lesch-Nyhan syndrome and self-mutilating behavior who received botulinum toxin injections to his bilateral masseter muscles after failing multiple other treatments. Following injections, the patient had reduction in self-biting, along with improvements in speech, mastication and feeding observed in speech therapy. Read More

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January 2021

Recurrent Xanthine Stones in a Young Patient with Lesch-Nyhan Syndrome.

J Endourol Case Rep 2020 29;6(4):268-270. Epub 2020 Dec 29.

Department of Urology, Comprehensive Kidney Stone Center, UC San Diego Health, San Diego, California, USA.

Lesch-Nyhan syndrome results from a rare X-linked inborn error of metabolism leading to a total body accumulation of uric acid. Clinical manifestations include self-mutilating behavior, poor muscle control, intellectual disability, gout, and kidney disease. Unfortunately, life expectancy is limited to the second or third decade of life because of symptoms associated with hyperuricemia, particularly renal failure. Read More

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December 2020

Oxidopamine and oxidative stress: Recent advances in experimental physiology and pharmacology.

Chem Biol Interact 2021 Feb 13;336:109380. Epub 2021 Jan 13.

Ben-Gurion University of the Negev, Zlotowski Center for Neuroscience, Faculty of Health Sciences, Department of Physiology and Cell Biology, P.O.B. 653, Beersheba, Israel.

Oxidopamine (6-hydroxydopamine, 6-OHDA) is a toxin commonly used for the creation of experimental animal models of Parkinson's disease, attention-deficit hyperactivity disorder, and Lesch-Nyhan syndrome. Its exact mechanism of action is not completely understood, although there are many indications that it is related to the generation of reactive oxygen species (ROS), primarily in dopaminergic neurons. In certain experimental conditions, oxidopamine may also cause programmed cell death via various signaling pathways. Read More

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February 2021

Clinical and molecular findings in a Turkish family with an ultra-rare condition, ELP2-related neurodevelopmental disorder.

Mol Biol Rep 2021 Jan 3;48(1):701-708. Epub 2021 Jan 3.

Department of Pediatrics, Faculty of Medicine, Duzce University, Duzce, Turkey.

Elongator is a multi-subunit protein complex bearing six different protein subunits, Elp1 to -6, that are highly conserved among eukaryotes. Elp2 is the second major subunit of Elongator and, together with Elp1 and Elp3, form the catalytic core of this essential complex. Pathogenic variants that affect the structure and function of the Elongator complex may cause neurodevelopmental disorders. Read More

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January 2021

CT, US and MRI of xanthine urinary stones: in-vitro and in-vivo analyses.

BMC Urol 2020 Oct 12;20(1):157. Epub 2020 Oct 12.

Division of Pediatric Radiology, Department of Radiology, Montefiore Medical Center, Albert Einstein College of Medicine, 111 East, 210th Street, Bronx, NY, 10467, USA.

Background: Xanthine urinary stones are a rare entity that may occur in patients with Lesch-Nyhan syndrome receiving allopurinol. There is little literature describing imaging characteristics of these stones, and the most appropriate approach to imaging these stones is therefore unclear. We performed in-vitro and in-vivo analyses of xanthine stones using computed tomography (CT) at different energy levels, ultrasound (US), and magnetic resonance imaging (MRI). Read More

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October 2020

Atypical Cadherin FAT3 Is a Novel Mediator for Morphological Changes of Microglia.

eNeuro 2020 Nov/Dec;7(6). Epub 2020 Dec 16.

Faculty of Life and Environmental Sciences, University of Tsukuba, Tsukuba, Ibaraki 305-8577, Japan

Microglia are resident macrophages that are critical for brain development and homeostasis. Microglial morphology is dynamically changed during postnatal stages, leading to regulating synaptogenesis and synapse pruning. Moreover, it has been well known that the shape of microglia is also altered in response to the detritus of the apoptotic cells and pathogens such as bacteria and viruses. Read More

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December 2020

Delayed emergence from propofol anesthesia in a patient with Lesch-Nyhan syndrome: A case report.

Medicine (Baltimore) 2020 Aug;99(34):e21847

Department of Anesthesiology and Pain Medicine, Yeungnam University School of Medicine, Daegu, Republic of Korea.

Rationale: Lesch-Nyhan syndrome (LNS) is an X-linked recessive disorder presenting with uric acid overproduction, neurocognitive disability, and behavioral disturbances. Inhalational anesthesia has been frequently used in LNS patients undergoing surgery. Characteristic compulsive self-injurious behavior and high risk of emesis may hinder inhalational induction. Read More

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An electrochemical biosensor based on multi-wall carbon nanotube-modified screen-printed electrode immobilized by uricase for the detection of salivary uric acid.

Anal Bioanal Chem 2020 Oct 13;412(26):7275-7283. Epub 2020 Aug 13.

School of Public Health, Nantong University, Nantong, 226019, Jiangsu, China.

The amounts of uric acid (UA) in non-invasive biological samples, such as saliva, are critical for diagnosis and therapy of gout, hyperuricemia, Lesch-Nyhan syndrome, and several other diseases. Here, disposable UA biosensors were fabricated with the screen printing technique on the substrate of flexible PET. The working electrode was modified with carbon nanotubes followed by uricase for UA detection with excellent selectivity. Read More

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October 2020

Deep Brain Stimulation of the Internal Pallidum in Lesch-Nyhan Syndrome: Clinical Outcomes and Connectivity Analysis.

Neuromodulation 2021 Feb 23;24(2):380-391. Epub 2020 Jun 23.

Department of Neurosurgery, King's College Hospital NHS Foundation Trust, London, UK.

Background: Lesch-Nyhan syndrome (LNS) is a rare genetic disorder characterized by a deficiency of hypoxanthine-guanine phosphoribosyltransferase enzyme. It manifests during infancy with compulsive self-mutilation behavior associated with disabling generalized dystonia and dyskinesia. Clinical management of these patients poses an enormous challenge for medical teams and carers. Read More

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February 2021

A case of a 'rude' but not to be missed manifestation of epilepsy: ictal swearing.

J R Coll Physicians Edinb 2020 Mar;50(1):46-48

Department of Neurology, Haeundae Paik Hospital, Inje University College of Medicine, Haeundae-ro 875, Haeundae-gu, Busan 612896, Republic of Korea, Email:

Swearing is described in various neurological conditions such as Tourette syndrome, Lesch-Nyhan syndrome and post stroke or encephalitis. However, swearing as an ictal manifestation or automatism has rarely been reported. We herein describe a case with swearing as a predominant manifestation in focal epilepsy. Read More

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Physiological levels of folic acid reveal purine alterations in Lesch-Nyhan disease.

Proc Natl Acad Sci U S A 2020 06 19;117(22):12071-12079. Epub 2020 May 19.

Department of Neurology, Emory University School of Medicine, Atlanta, GA 30322.

Lesch-Nyhan disease (LND), caused by a deficient salvage purine pathway, is characterized by severe neurological manifestations and uric acid overproduction. However, uric acid is not responsible for brain dysfunction, and it has been suggested that purine nucleotide depletion, or accumulation of other toxic purine intermediates, could be more relevant. Here we show that purine alterations in LND fibroblasts depend on the level of folic acid in the culture media. Read More

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β-Amyloid precursor protein (APP) and the human diseases.

Khue Vu Nguyen

AIMS Neurosci 2019 29;6(4):273-281. Epub 2019 Oct 29.

Department of Medicine, Biochemical Genetics and Metabolism, The Mitochondrial and Metabolic Disease Center, School of Medicine, University of California, San Diego, Building CTF, Room C-103, 214 Dickinson Street, San Diego, CA 92103-8467, USA.

Several pathophysiological functions of the human β-amyloid precursor protein (APP) have been recently proposed in different human diseases such as neurodevelopmental and neurodegenerative disorders including rare diseases such as autism, fragile X syndrome, amyotrophic lateral sclerosis, multiple sclerosis, Lesch-Nyhan disease; common and complex disorders such as Alzheimer's disease; metabolic disorders such as diabetes; and also cancer. APP as well as all of its proteolytic fragments including the amyloid-β (Aβ) peptide, are part of normal physiology. The targeting of the components of APP proteolytic processing as a pharmacologic strategy will not be without consequences. Read More

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October 2019

Lesch-Nyhan disease: I. Construction of expression vectors for hypoxanthine-guanine phosphoribosyltransferase (HGprt) enzyme and amyloid precursor protein (APP).

Nucleosides Nucleotides Nucleic Acids 2020 20;39(6):905-922. Epub 2020 Apr 20.

Department of Pediatrics, School of Medicine, University of California, San Diego, California, USA.

Lesch-Nyhan disease (LND) is a rare X-linked inherited neurogenetic disorder of purine metabolism in which the enzyme, hypoxanthine-guanine phosphoribosyltransferase (HGprt) is defective. Despite having been characterized over 50 years ago, it remains unclear precisely how deficits in HGprt enzyme activity can lead to the neurological syndrome, especially the self-injury of LND. Several studies have proposed different hypotheses regarding the etiology of this disease, and several treatments have been tried in patients. Read More

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December 2020

Animal Model Contributions to Congenital Metabolic Disease.

Adv Exp Med Biol 2020 ;1236:225-244

Department of Biochemistry and Molecular Biology, The Pennsylvania State University, University Park, PA, USA.

Genetic model systems allow researchers to probe and decipher aspects of human disease, and animal models of disease are frequently specifically engineered and have been identified serendipitously as well. Animal models are useful for probing the etiology and pathophysiology of disease and are critical for effective discovery and development of novel therapeutics for rare diseases. Here we review the impact of animal model organism research in three examples of congenital metabolic disorders to highlight distinct advantages of model system research. Read More

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HPRT-related hyperuricemia with a novel p.V35M mutation in HPRT1 presenting familial juvenile gout.

CEN Case Rep 2020 08 3;9(3):210-214. Epub 2020 Mar 3.

Division of Nephrology, Endocrinology, and Vascular Medicine, Tohoku University Graduate School of Medicine, Sendai, Japan.

Unlike complete deficiency of hypoxanthine phosphoribosyltransferase (HPRT) (i.e., Lesch-Nyhan syndrome), partial HPRT deficiency causes HPRT-related hyperuricemia without neurological symptoms. Read More

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Late diagnosis of Lesch-Nyhan disease complicated with end-stage renal disease and tophi burst: a case report.

Ren Fail 2020 Nov;42(1):113-121

Pediatric Nephrology Division, Department of Child Health, Faculty of Medicine, Cipto Mangunkusumo Hospital, University of Indonesia, Central Jakarta, Indonesia.

Lesch-Nyhan disease (LND) is a rare X-linked recessive inborn error of purine metabolism. Late diagnosis of LND may cause significant morbidity. LND cases have never been reported in Indonesia. Read More

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November 2020

Anaesthetic management of a child with Lesch Nyhan syndrome.

Indian J Anaesth 2019 Dec 11;63(12):1051-1052. Epub 2019 Dec 11.

Department of Anaesthesia, Lady Hardinge Medical College and Smt. SK Hospital, New Delhi, India.

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December 2019

Clinical outcome of prenatally suspected cardiac rhabdomyomas of the fetus.

J Perinat Med 2019 Dec;48(1):74-81

Department of Obstetrics, Charité - Universitätsmedizin Berlin, Berlin, Germany.

Background The main objective of this retrospective analysis in a large tertiary center was the clinical outcome of prenatally diagnosed cardiac rhabdomyomas as well as the identification of factors influencing fetal prognosis. Methods A total of 45 cases of fetuses with prenatally suspected rhabdomyoma and their clinical outcome were analyzed retrospectively. A review of the literature was also performed. Read More

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December 2019

[Generation of cell strains containing point mutations in HPRT1 by CRISPR/Cas9].

Yi Chuan 2019 Oct;41(10):939-949

State Key Laboratory of Biocontrol, School of Life Sciences, Sun Yat-sen University, Guangzhou 510006, China.

Mutations in Hypoxanthine-guanine Phosphoribosyltransferase1 (HPRT1) gene can lead to metabolic disorder of hypoxanthine and guanine metabolism, and other severe symptoms such as hypophrenia, gout, and kidney stones, called the Lesch-Nyhan disease (LND). Although the mutations are widely distributed throughout the HPRT1 gene, there are some isolated hot spots. In this study, we aim to introduce two previously reported hot spots, c. Read More

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October 2019

HPRT and Purine Salvaging Are Critical for Hematopoietic Stem Cell Function.

Stem Cells 2019 12 12;37(12):1606-1614. Epub 2019 Oct 12.

Institute of Molecular Medicine, Ulm University, Ulm, Germany.

Adult hematopoietic stem cells (HSCs) maintain tissue homeostasis and regenerative capacity of the hematopoietic system through self-renewal and differentiation. Metabolism is recognized as an important regulatory entity controlling stem cells. As purine nucleotides are essential for metabolic functions, we analyzed the role of hypoxanthine guanine phosphoribosyl transferase (HPRT)-associated purine salvaging in HSCs. Read More

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December 2019

Gout and the risk of advanced chronic kidney disease in the UK health system: a national cohort study.

BMJ Open 2019 08 28;9(8):e031550. Epub 2019 Aug 28.

OXON Epidemiology, London, UK.

Objective: Evaluate the association between gout and risk of advanced chronic kidney disease (CKD).

Design: Retrospective matched cohort study.

Setting: UK Clinical Practice Research Datalink. Read More

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Reduced Graphene Oxide-based Covalent Hybrid Film Electrode Self-assembled with Gold Nanoparticles for the Enzyme-Free Amperometric Sensing of Serum Uric Acid.

Bhaskar Manna

Anal Sci 2020 Jan 23;36(1):121-126. Epub 2019 Aug 23.

Functional Materials and Electrochemistry Laboratory, Department of Chemistry, Indian Institute of Technology Kharagpur.

Purine metabolism in the human body leads to the production of uric acid (UA) at the end. But an abnormal level of UA in the human body creates health problems. The sensing and quantification of UA is essentially required to prevent and diagnose hypertension, arthritis, gout, hyperuricemia or Lesch-Nyhan syndrome, etc. Read More

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January 2020

Positron Emission Tomography in Pediatric Neurodegenerative Disorders.

Harry T Chugani

Pediatr Neurol 2019 11 17;100:12-25. Epub 2019 Jul 17.

Department of Neurology, NYU School of Medicine, New York, New York. Electronic address:

Application of molecular neuroimaging using positron emission tomographic techniques to assess pediatric neurodegenerative disorders has been limited, unlike in adults where positron emission tomography has contributed to clinical diagnosis, monitoring of neurodegenerative disease progression, and assessment of novel therapeutic approaches. Yet, there is a huge unexplored potential of molecular imaging to improve our understanding of the pathophysiology of neurodegenerative disorders in children and provide radiological biomarkers that can be applied clinically. The obstacles in performing PET scans on children include sedation, radiation exposure, and access but, as will be illustrated, these barriers can be easily overcome. Read More

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November 2019

Tongue Protrusion Dystonia in Pantothenate Kinase-Associated Neurodegeneration.

Pediatr Neurol 2020 02 13;103:76-78. Epub 2019 Jun 13.

Department of Neurology, Hazrat Rasool Hospital, Iran University of Medical Sciences, Tehran, Iran. Electronic address:

Background: Tongue protrusion dystonia is an uncommon focal dystonia involving the lingual muscles. Causes of tongue protrusion dystonia include tardive dystonia, posthypoxic dystonia, neuroacanthocytosis, pantothenate kinase-associated neurodegeneration, and Lesch-Nyhan syndrome.

Method: We summarize three children with pantothenate kinase-associated neurodegeneration and tongue protrusion dystonia. Read More

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February 2020

Animal Models of Self-Injurious Behavior: An Update.

Darragh P Devine

Methods Mol Biol 2019 ;2011:41-60

Behavioral and Cognitive Neuroscience Program, Department of Psychology, University of Florida, Gainesville, FL, USA.

Although self-injurious behavior is a common comorbid behavior problem among individuals with neurodevelopmental disorders, little is known about its etiology and underlying neurobiology. Interestingly, it shows up in various forms across patient groups with distinct genetic errors and diagnostic categories. This suggests that there may be shared neuropathology that confers vulnerability in these disparate groups. Read More

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