Lesch-Nyhan syndrome overview

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Lesch-Nyhan syndrome Microchapters

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Overview

Historical Perspective

Classification

Pathophysiology

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Differentiating Lesch-Nyhan syndrome from other Diseases

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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]

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Overview

Lesch-Nyhan's syndrome, is a rare, inherited disorder caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HGPRT).

Historical Perspective

Classification

Pathophysiology

Causes

Differentiating Lesch-Nyhan syndrome from Other Diseases

Epidemiology and Demographics

Risk Factors

Screening

Natural History, Complications, and Prognosis

Diagnosis

Diagnostic Criteria

History and Symptoms

Physical Examination

Laboratory Findings

Imaging Findings

Other Diagnostic Studies

Treatment

Medical Therapy

Surgery

Primary Prevention

Secondary Prevention

References

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