Lesch-Nyhan syndrome

a bibliography and dictionary for physicians, patients, and genome researchers [to Internet references]

by James N. Parker

• 149 Want to read
• 10 Currently reading

Published 2007 by ICON Health Publications in San Diego, CA .
Written in English

Subjects:

• Bibliography,
• Pediatrics,
• MEDICAL,
• Dictionaries,
• Research,
• Children"s Health,
• Lesch-Nyhan syndrome,
• Computer network resources,
• HEALTH & FITNESS

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Edition Notes

Statement	James N. Parker and Philip M. Parker, editors
Series	A 3-in-1 medical reference, 3-in-1 medical reference
Classifications
LC Classifications	RJ399.L47 L47 2007eb
The Physical Object
Format	[electronic resource] :
Pagination	1 online resource.
ID Numbers
Open Library	OL25561552M
ISBN 10	1429496886
ISBN 10	9781429496889
OCLC/WorldCa	173821176

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Lesch-Nyhan syndrome is a rare genetic condition which leads to excess uric acid in the blood, and it causes kidney, joint, neurological, and behavioral problems. Normally, each cell contains both DNA and RNA, and diving deeper, each nucleotide can be broken down into a sugar, a deoxyribose in DNA or a ribose in RNA, one to three phosphate. Lesch-Nyhan syndrome is a disorder that is passed down through families (inherited). It affects how the body builds and breaks down purines. Purines are a normal part of human tissue that help make up the body's genetic blueprint.

Title: LeschNyhan Syndrome 1 Lesch-Nyhan Syndrome. Daniela Cosentino ; Mei Shi; 2 Introduction. Rare X-chromosome-linked disorder 1/, live births ; First characterized by Michael Lesch William. Lesch-Nyhan syndrome is an X-linked recessive disorder. This means that if a bad HPRT gene on one X chromosome is paired with a normal gene on the other X chromosome the disease does not develop. Lesch Nyhan Syndrome has 1, members. How many of us have heard of Lesch Nyhan Syndrome? its consequences and its manifestations? Many have a child.

Lesch–Nyhan syndrome (LNS) is a rare X-linked recessive disorder with an incidence of 1/,–, live births. It is characterized by neurological manifestations, including symptoms of compulsive self-mutilation, which result in the destruction of oral and perioral tissues. This report describes a case of a four-year-old boy diagnosed with LNS, who was referred for evaluation and Author: Giuliana Caserta, Patrizia Defabianis. If a mother is a carrier of Lesch-Nyhan syndrome and the gene change in the family is known, testing can be performed during the pregnancy. The first step is to see if the baby is male or female, then the specific gene can be looked at for the change that is in the family. Lesch–Nyhan syndrome is a rare and inheritable disease caused due to mutations in the HPRT gene situated on the X chromosome that results in deficiency of HGPRT enzyme. This deficiency in the HGPRT enzyme affects the body’s mechanism of building and breaking down purines.