Lesch-Nyhan's syndrome

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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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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

Differentiating Lesch-Nyhan syndrome from other Diseases

Epidemiology and Demographics

Screening

Natural History, Complications and Prognosis

Diagnosis

History and Symptoms | Physical Examination | Laboratory Findings | X ray | CT | Ultrasound

Treatment

Medical Therapy | Primary Prevention | Secondary prevention

External links

Template:Endocrine, nutritional and metabolic pathology

da:Lesch-Nyhans syndrom de:Lesch-Nyhan-Syndrom it:Sindrome di Lesch-Nyhan


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