Lesch-Nyhan's syndrome: Difference between revisions

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==External links==
==External links==
*[http://www.CLIMB.org.uk CLIMB] (Children Living with Inherited Metabolic Diseases)
*[http://www.lndinfo.org Lesch-Nyhan Syndrome Registry]
*[http://www.rarediseases.org National Organization for Rare Disorders (NORD)]
*[http://www.nichd.nih.gov National Institute of Child Health and Human Development (NICHD)]
*[http://www.nichd.nih.gov National Institute of Child Health and Human Development (NICHD)]
*[http://hometown.aol.com/pbaker71/myhomepage/profile.html Philip Baker's Homepage]
* [http://www.clevelandclinic.org/health/health-info/docs/1200/1297.asp?index=6035 Lesch-Nyhan Syndrome.] The Cleveland clinic.  Retrieved on 2007-04-12.
*[http://web.archive.org/web/20050403230609/http://www.chclibrary.org/micromed/00054660.html Lesch-Nyhan Syndrome.] Joseph F. Smith medical library.  Retrieved from the internet archive, April 03 2005 version on 2007-04-12.
{{Endocrine, nutritional and metabolic pathology}}
{{Endocrine, nutritional and metabolic pathology}}



Revision as of 04:38, 15 August 2012

Lesch-Nyhan syndrome
Philip Baker, an adult with Lesch-Nyhan Syndrome. Visible in this picture are the restraints on Philip's chair that he must use to control his involuntary movement.
ICD-10 E79.1
ICD-9 277.2
OMIM 308000 300322
DiseasesDB 7415
MedlinePlus 001655

Lesch-Nyhan syndrome Microchapters

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Patient Information

Overview

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Pathophysiology

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Differentiating Lesch-Nyhan syndrome from other Diseases

Epidemiology and Demographics

Risk Factors

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Diagnosis

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Aarti Narayan, M.B.B.S [2]

Synonyms and keywords: Hypoxanthine-guanine phosphoribosyltranferase deficiency; HGPRT-1 deficiency; HGPRT deficiency; Nyhan's syndrome; LNS

Overview

Historical Perspective

Pathophysiology

Epidemiology and Demographics

Screening

Differentiating Lesch-Nyhan syndrome from other diseases

Natural History, Complications and Prognosis

Diagnosis

History | Physical Examination | Lab tests | Electrocardiogram | X ray | CT | MRI | Echocardiogram or Ultrasound | Other Imaging Findings | Other Diagnostic Studies

Treatment

Medical Therapy | Primary Prevention | Secondary prevention

References

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