Identify the correct statements about Lesch-Nyhan syndrome. There is more than o
ID: 507648 • Letter: I
Question
Identify the correct statements about Lesch-Nyhan syndrome. There is more than one correct statement. Check all the true statements. Some symptoms of Lesch-Nyhan syndrome include involuntary movements and self-mutilation. Gout causes Lesch-Nyhan syndrome. Uric acid is produced in excess, and acts as a strong antioxidant. This syndrome allows for purine nucleotide production only via the de novo pathway. This syndrome is caused by a deficiency in hypoxanthine-guaninephosphoribosyltransferase (HGPRT).Explanation / Answer
Lesch–Nyhan syndrome (LNS), also known as Nyhan syndrome and juvenile gout, is a rare inherited disorder caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HGPRT), produced by mutations in the HPRT gene located on the X chromosome.It is characterized by neurological and behavioral abnormalities and the overproduction of uric acid. Uric acid is a waste product of normal chemical processes and is found in blood and urine. Excess uric acid can be released from the blood and build up under the skin and cause gouty arthritis (arthritis caused by an accumulation of uric acid in the joints). Uric acid accumulation can also cause kidney and bladder stones.
The nervous system and behavioral disturbances experienced by people with Lesch-Nyhan syndrome include abnormal involuntary muscle movements, such as tensing of various muscles (dystonia), jerking movements (chorea), and flailing of the limbs (ballismus). People with Lesch-Nyhan syndrome usually cannot walk, require assistance sitting, and generally use a wheelchair. Self-injury (including biting and head banging) is the most common and distinctive behavioral problem in individuals with Lesch-Nyhan syndrome.
Mutations in the HPRT1 gene cause Lesch-Nyhan syndrome. The HPRT1 gene provides instructions for making an enzyme called hypoxanthine phosphoribosyltransferase 1. This enzyme is responsible for recycling purines, a type of building block of DNA and its chemical cousin RNA. Recycling purines ensures that cells have a plentiful supply of building blocks for the production of DNA and RNA.Although HGPRT might seem to play a minor role in purine metabolism, its absence has profound consequences: de novo purine biosynthesis is dramatically increased and uric acid levels in the blood are elevated.
From the above evidences the correct statements for Lesch-Nyhan syndrome will be----
1) Some symptoms of Lesch-Nyhan syndrome include involuntary movements and self mutilation.
2) Uric acid is produced in excess,and acts as a strong antioxidant.
3) This syndrome allows for purine nucleotide production only via the de novo pathway.
& 4) This syndrome is caused by a deficiency in hypoxanthine-guaninephosphoribosyltransferase (HGPRT).