Describe diagnosis and symptoms of:i) Lesch-Nyhan Syndromeii)

Question

Describe diagnosis and symptoms of:

i) Lesch-Nyhan Syndrome

ii) SCID

09 Jan 2025

Answer :

Word Count : 725

i) Lesch-Nyhan Syndrome (LNS):

Lesch-Nyhan Syndrome (LNS) is a rare inherited genetic disorder caused by a deficiency in the enzyme hypoxanthine-guanine phosphoribosyltransferase (HGPRT). This enzyme plays a crucial role in the purine salvage pathway, which is responsible for recycling purines from degraded nucleotides. When HGPRT is deficient or absent, purine metabolism is disrupted, leading to the accumulation of uric acid and its byproducts, which manifest in various ways.

The hallmark symptoms of Lesch-Nyhan Syndrome include:

1. Neurological symptoms: LNS is characterized by severe neurological manifestations, including motor dysfunction, spasticity, and involuntary movements. Most individuals with LNS exhibit self-mutilating behaviors such as biting their lips, fingers, and other body parts, which can lead to severe self-inflicted injuries. These behaviors are believed to be related to an imbalance in dopamine pathways in the brain.

2. Hyperuricemia and gout: Due to the accumulation of uric acid, individuals with LNS typically suffer from hyperuricemia (elevated levels of uric acid in the blood), which can result in gout. Gout is characterized by painful joint inflammation caused by the deposition of urate crystals in the joints, often ________ ___ ___ ________ _____ _________ _____ _____ _________ __________.
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