Lesch Nyhan syndrome is caused by:
HPRT complete deficiency
HPRT Partial deficiency
Purine nucleoside phosphorylase deficiency
PRP synthetase deficiency
Ans. A. HPRT complete deficiencya. Mutations in the HPRT1 gene cause Lesch-Nyhan syndrome,b. Mutations in the HPRT1 gene cause a severe deficiency of the enzyme hypoxanthine phosphoribosyl transferase 1.c. This enzyme is responsible for recycling purines, a type of building block of DNA and its chemical cousin RNA.d. When this enzyme is lacking, the breakdown of purines results in abnormally high levels of uric acid in the body,e. It is unclear how a shortage of this enzyme causes the neurological and behavioral problems characteristic of Lesch- Nyhan syndrome.
Molecular Genetics