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Understanding Lesch-Nyhan Syndrome: Rare Mutation in Males Passed by Mothers

Lesch-Nyhan Syndrome (LNS) is a rare genetic mutation primarily found in males, passed by the mother. It is a sex-linked recessive disease leading to unique symptoms like uric acid crystals, delayed growth, and kidney problems. LNS cases often arise from new mutations, not family history. Learn more about this intriguing condition.

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Understanding Lesch-Nyhan Syndrome: Rare Mutation in Males Passed by Mothers

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  1. By Ian C Lesch Nyhan Syndrome

  2. Is it more common in males or females? • Lesch Nyhan this a rare gene mutation that is usually carried by the mother and is passed on to the son. LNS is present in baby boys when they are born. • The cases of LNS arise from new mutations and do not have any family history from it.

  3. Is it Sex linked or Autosomal..Domintant or Recessive • Lesch Nyhan Syndrome is a sex linked mutation. • And it is Recessive disease.

  4. Interesting Facts • One of the first symptoms of the disease is the presence of sand-like crystals of uric acid in the diapers of the affected infant. • The males can be affected from it by delayed growth and puberty.

  5. How Often does it Occur • This mutation is rare and it can appear without having family history. It can only be passed to the son from the mother

  6. Symptoms • Some of the symptoms are that the people who have it they bite on their fingers. • They also have kidney problems

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