Full Text Journal Articles about
Lesch Nyhan Disease

Advertisement

Find full text journal articles






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

Cahyani Gita Ambarsari, Daffodilone Cahyadi, Lenny Sari, Oryza Satria, Felly Sahli, Thyrza Laudamy Darmadi, Agustina Kadaristiana,

Background: 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.Case report: A 15-year-old male who had been diagnosed with cerebral palsy was referred to our hospital due to renal failure ... Read more >>

Ren Fail (Renal Failure)
[2020, 42(1):113-121]

Cited: 0 times

View full text PDF listing >>



Description of the Lesch-Nyhan neurobehavioral disorder and its management through participant observation of three young individuals.

Anna Bozano, Alessandra Schiaffino, Alessandra Spessa, Francesca Valeriani, Raimondo Mancinelli, Vanna Micheli, Diego Dolcetta,

Background:Lesch-Nyhan disease (LND; OMIM 300322), caused by virtually absent hypoxanthine-guanine phosphoribosyltransferase activity, in its classic form is characterised by hyperuricemia, variable cognitive impairment, severe motor disorder and a characteristic behavioural disorder (Lesch-Nyhan Behavior, LNB), typically described as self-injurious behavior (SIB) and "self-mutilation." This work focuses on the latter aspect with ... Read more >>

JIMD Rep (JIMD reports)
[2020, 52(1):63-71]

Cited: 0 times

View full text PDF listing >>



Advertisement

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

Eikan Mishima, Takayasu Mori, Yoko Nakajima, Takafumi Toyohara, Koichi Kikuchi, Yoshitsugu Oikawa, Tetsuro Matsuhashi, Yasuhiro Maeda, Takehiro Suzuki, Masataka Kudo, Sadayoshi Ito, Eisei Sohara, Shinichi Uchida, Takaaki Abe,

Unlike complete deficiency of hypoxanthine phosphoribosyltransferase (HPRT) (i.e., Lesch-Nyhan syndrome), partial HPRT deficiency causes HPRT-related hyperuricemia without neurological symptoms. Herein, we describe a 22-year-old man without neurological symptoms that presented gout, hyperuricemia (serum urate level, 12.2 mg/dL), multiple renal microcalculi, and a family history of juvenile gout that was exhibited by ... Read more >>

CEN Case Rep (CEN case reports)
[2020, :]

Cited: 0 times

View full text PDF listing >>



Spinal Tophi Causing Cord Compression and Mimicking Epidural Abscess in a Young Man With Lesch-Nyhan Variant.

Jean W Liew, Sarah A Struthers, Fionnuala C Cormack, Alison M Bays, Bobby Kwanghoon Han,

J Clin Rheumatol (Journal of clinical rheumatology : practical reports on rheumatic & musculoskeletal diseases)
[2020, 26(3):e64]

Cited: 0 times

View full text PDF listing >>



Rescuing compounds for Lesch-Nyhan disease identified using stem cell-based phenotypic screening.

Valentin Ruillier, Johana Tournois, Claire Boissart, Marie Lasbareilles, Gurvan Mahé, Laure Chatrousse, Michel Cailleret, Marc Peschanski, Alexandra Benchoua,

Lesch-Nyhan disease (LND) is a rare monogenic disease caused by deficiency of the salvage pathway enzyme hypoxanthine-guanine phosphoribosyltransferase (HGPRT). LND is characterized by severe neuropsychiatric symptoms that currently cannot be treated. Predictive in vivo models are lacking for screening and evaluating candidate drugs because LND-associated neurological symptoms are not recapitulated ... Read more >>

JCI Insight (JCI insight)
[2020, 5(4):]

Cited: 0 times

View full text PDF listing >>



Clinical outcome of prenatally suspected cardiac rhabdomyomas of the fetus.

Judith Altmann, Verena Kiver, Wolfgang Henrich, Alexander Weichert,

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 ... Read more >>

J Perinat Med (Journal of perinatal medicine)
[2019, :]

Cited: 0 times

View full text PDF listing >>



Anaesthetic management of a child with Lesch Nyhan syndrome.

Shraya Banerjee, Sunil K Sinha, Preeti G Varshney, Pragya Ahuja,

Indian J Anaesth (Indian journal of anaesthesia)
[2019, 63(12):1051-1052]

Cited: 0 times

View full text PDF listing >>



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

Kai Zhang, Wei Liu, Xiao-Feng Liu, Yao-Sheng Chen, Xiao-Hong Liu, Zu-Yong He,

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 ... Read more >>

Yi Chuan (Yi chuan = Hereditas)
[2019, 41(10):939-949]

Cited: 0 times

View full text PDF listing >>



The Effect of S-Adenosylmethionine Treatment on Neurobehavioral Phenotypes in Lesch-Nyhan Disease: A Case Report.

Ken Momosaki, Jun Kido, Shiro Matsumoto, Atsuo Taniguchi, Tomoyuki Akiyama, Takaaki Sawada, Shiro Ozasa, Kimitoshi Nakamura,

Lesch-Nyhan disease (LND) is an X-linked recessive disorder caused by a deficiency in hypoxanthine-guanine phosphoribosyl transferase. Patients with LND experience involuntary movements, including dystonia, choreoathetosis, opisthotonos, ballismus, and self-injury. Alleviating these involuntary movements is important to improve the quality of life in patients with LND. Many clinicians have difficulty controlling ... Read more >>

Case Rep Neurol (Case reports in neurology)
[2019, 11(3):256-264]

Cited: 0 times

View full text PDF listing >>



Rare case report of Van Gogh syndrome in a patient with paranoid schizophrenia.

Varchasvi Mudgal, Pali Rastogi, Vijay Niranjan, Ramghulam Razdan,

Self-mutilation is often associated with psychiatric disorders. We describe here a 22-year-old male Indian with decreased sleep, aggressive behaviour, self-muttering, disorganised behaviour, frequent spitting, biting and self-mutilation; he bit off his right ring finger and left thumb (Van Gogh syndrome). Self-harm behaviour was frequently evidenced by family members resulting in ... Read more >>

Gen Psychiatr (General psychiatry)
[2020, 33(1):e100095]

Cited: 0 times

View full text PDF listing >>



Phenotypic and molecular spectrum of Korean patients with Lesch-Nyhan syndrome and attenuated clinical variants.

Ja Hyang Cho, Jin-Ho Choi, Sun Hee Heo, Gu-Hwan Kim, Mi-Sun Yum, Beom Hee Lee, Han-Wook Yoo,

Lesch-Nyhan syndrome (LNS) is an X-linked recessive disorder caused by mutations in the HPRT1 gene. The clinical features and mutation spectrum of 26 Korean LNS patients from 23 unrelated families were retrospectively reviewed. The HPRT1 gene was analyzed by direct sequencing of genomic DNA. The median age at diagnosis was ... Read more >>

Metab Brain Dis (Metabolic brain disease)
[2019, 34(5):1335-1340]

Cited: 0 times

View full text PDF listing >>



Positron Emission Tomography in Pediatric Neurodegenerative Disorders.

Harry T Chugani,

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 ... Read more >>

Pediatr. Neurol. (Pediatric neurology)
[2019, 100:12-25]

Cited: 0 times

View full text PDF listing >>



Clinical, biochemical and genetic characteristics of a cohort of 101 French and Italian patients with HPRT deficiency.

Annalisa Madeo, Maja Di Rocco, Anaïs Brassier, Nadia Bahi-Buisson, Pascale De Lonlay, Irène Ceballos-Picot,

BACKGROUND:HPRT deficiency is a rare disorder of purine metabolism whose natural history is not fully understood. No optimal management recommendations exist. The objective of the present study is to characterize a large cohort of patients with HPRT deficiency, comparing Lesch-Nyhan Disease (LND) and its attenuated variants, with the purpose of ... Read more >>

Mol. Genet. Metab. (Molecular genetics and metabolism)
[2019, 127(2):147-157]

Cited: 0 times

View full text PDF listing >>



Understanding the structure-function relationship of HPRT1 missense mutations in association with Lesch-Nyhan disease and HPRT1-related gout by in silico mutational analysis.

Ashish Kumar Agrahari, M Krishna Priya, Medapalli Praveen Kumar, Iftikhar Aslam Tayubi, R Siva, B Prabhu Christopher, C George Priya Doss, Hatem Zayed,

The nucleotide salvage pathway is used to recycle degraded nucleotides (purines and pyrimidines); one of the enzymes that helps to recycle purines is hypoxanthine guanine phosphoribosyl transferase 1 (HGPRT1). Therefore, defects in this enzyme lead to the accumulation of DNA and nucleotide lesions and hence replication errors and genetic disorders. ... Read more >>

Comput. Biol. Med. (Computers in biology and medicine)
[2019, 107:161-171]

Cited: 1 time

View full text PDF listing >>



Tongue Protrusion Dystonia in Pantothenate Kinase-Associated Neurodegeneration.

Yasaman Saeedi, Foad Kazemi, Seyed Amir Hassan Habibi, Abbas Tafakhori, Ahmad Chitsaz, Alfonso Fasano, Anthony E Lang, Mohammad Rohani,

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. All three patients underwent careful neurological examination, brain magnetic ... Read more >>

Pediatr. Neurol. (Pediatric neurology)
[2019, :]

Cited: 0 times

View full text PDF listing >>



Naming Genes for Dystonia: DYT-z or Ditzy?

Niccolo E Mencacci, H A Jinnah,

Dystonias are a clinically and etiologically diverse group of disorders. Numerous genes have now been associated with different dystonia syndromes, and multiple strategies have been proposed for how these genes should be lumped and split into meaningful categories. The traditional approach has been based on the Human Genome Organization's plan ... Read more >>

Tremor Other Hyperkinet Mov (N Y) (Tremor and other hyperkinetic movements (New York, N.Y.))
[2019, 9:]

Cited: 0 times

View full text PDF listing >>



Inhibiting PNP for the therapy of hyperuricemia in Lesch-Nyhan disease: Preliminary in vitro studies with analogues of immucillin-G.

Gabriella Jacomelli, Eva Baldini, Claudia Mugnaini, Vanna Micheli, Giulia Bernardini, Annalisa Santucci,

Lesch-Nyhan disease (LND) is a rare X-linked genetic disorder, with complete hypoxanthine-guanine phosphoribosyltransferase (HGPRT) deficiency, uric acid (UA), hypoxanthine and xanthine accumulation, and a devastating neurologic syndrome. UA excess, causing renal failure, is commonly decreased by xanthine oxidoreductase (XOR) inhibitors, such as allopurinol, yielding a xanthine and hypoxanthine increase. Xanthine ... Read more >>

J. Inherit. Metab. Dis. (Journal of inherited metabolic disease)
[2019, 42(1):178-185]

Cited: 0 times

View full text PDF listing >>



Defining Mental and Behavioural Disorders in Genetically Determined Neurodevelopmental Syndromes with Particular Reference to Prader-Willi Syndrome.

Anthony J Holland, Lucie C S Aman, Joyce E Whittington,

Genetically determined neurodevelopmental syndromes are frequently associated with a particular developmental trajectory, and with a cognitive profile and increased propensity to specific mental and behavioural disorders that are particular to, but not necessarily unique to the syndrome. How should these mental and behavioural disorders best be conceptualised given that similar ... Read more >>

Genes (Basel) (Genes)
[2019, 10(12):]

Cited: 0 times

View full text PDF listing >>



Management of Self-injurious Behaviors in Children with Neurodevelopmental Disorders: A Pharmacotherapy Overview.

Ashley Sabus, James Feinstein, Patrick Romani, Edward Goldson, Allison Blackmer,

Neurodevelopmental disorders (NDDs), a group of disorders affecting ~1-2% of the general population, are caused by changes in brain development that result in behavioral and cognitive alterations, sensory and motor changes, and speech and language deficits. Neurodevelopmental disorders encompass a heterogeneous group of disorders including, but not limited to, Smith-Magenis ... Read more >>

Pharmacotherapy (Pharmacotherapy)
[2019, 39(6):645-664]

Cited: 0 times

View full text PDF listing >>



Neurodegeneration with Brain Iron Accumulation: Two Additional Cases with Dystonic Opisthotonus.

Sahil Mehta, Vivek Lal,

Background:Specific phenomenology and pattern of involvement in movement disorders point toward a probable clinical diagnosis. For example, forehead chorea usually suggests Huntington's disease; feeding dystonia suggests neuroacanthocytosis and risus sardonicus is commonly seen in Wilson's disease. Dystonic opisthotonus has been described as a characteristic feature of neurodegeneration with brain iron ... Read more >>

Tremor Other Hyperkinet Mov (N Y) (Tremor and other hyperkinetic movements (New York, N.Y.))
[2019, 9:]

Cited: 0 times

View full text PDF listing >>



Analysis of synonymous codon usage patterns of HPRT1 gene across twelve mammalian species.

Surajit De Mandal, Tarikul Huda Mazumder, Amrita Kumari Panda, Nachimuthu Senthil Kumar, Fengliang Jin,

Genetic changes in Hypoxanthine guanine phosphoribosyltransferace (HPRT1) gene can alter the expression of the dopamine neurotransmitter leads to abnormal neuron function, a disease called Lesch-Nyhan syndrome (LNS). Although different studies were conducted on LNS, information on codon usage bias (CUB) of HPRT1 gene is limited. The present study examines the ... Read more >>

Genomics (Genomics)
[2020, 112(1):304-311]

Cited: 0 times

View full text PDF listing >>



Animal Models of Self-Injurious Behavior: An Update.

Darragh P Devine,

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 ... Read more >>

Methods Mol. Biol. (Methods in molecular biology (Clifton, N.J.))
[2019, 2011:41-60]

Cited: 0 times

View full text PDF listing >>



Xanthine calculi in a patient with Lesch-Nyhan syndrome and factor V Leiden treated with allopurinol: case report.

Lisa B E Shields, Dennis S Peppas, Eran Rosenberg,

BACKGROUND:Lesch-Nyhan syndrome is a rare inborn error of purine metabolism marked by a complete deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT). Inherited as an X-linked recessive genetic disorder that primarily affects males, patients with Lesch-Nyhan syndrome exhibit severe neurological impairments, including choreoathetosis, ballismus, cognitive dysfunction, and self-injurious behavior. Uric acid ... Read more >>

BMC Pediatr (BMC pediatrics)
[2018, 18(1):231]

Cited: 1 time

View full text PDF listing >>



Formate metabolism in health and disease.

Matthias Pietzke, Johannes Meiser, Alexei Vazquez,

BACKGROUND:Formate is a one-carbon molecule at the crossroad between cellular and whole body metabolism, between host and microbiome metabolism, and between nutrition and toxicology. This centrality confers formate with a key role in human physiology and disease that is currently unappreciated. SCOPE OF REVIEW:Here we review the scientific literature on ... Read more >>

Mol Metab (Molecular metabolism)
[2020, 33:23-37]

Cited: 0 times

View full text PDF listing >>



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

Austin G Stack, Michelle Elizabeth Johnson, Betina Blak, Alyssa Klein, Lewis Carpenter, Robert Morlock, Andrew R Maguire, Victoria L Parsons,

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. PARTICIPANTS:The analysis included data for 68 897 patients with gout and 554 964 matched patients without gout. Patients were aged ≥18 years, registered at UK practices, had ≥12 months of ... Read more >>

BMJ Open (BMJ open)
[2019, 9(8):e031550]

Cited: 0 times

View full text PDF listing >>



Advertisement

Disclaimer
2.4623 s