76
two brothers. They showed severe symptoms of choreoathetosis, self-harm, dystonia, and urine crystals [31]. A complete description of inheritance pattern of LNS
and elevated level of uric acid found in patients by examining the lost activity of
HPRT enzyme in RBCs. After five decades, it becomes a standard which is used to
diagnose the HPRT activity in RBCs in Lesch–Nyhan syndrome [32].
Genetics
LNS is an inborn error of metabolism having lost enzymatic activity caused by the
mutation in gene present on the chromosome Xq26 [31]. This genetic mutation is
present in newborn babies by birth [33]. Deficiency in the activity of HPRT results
in hyperuricemia that accumulate in the body and causes delayed growth, mental
retardation, arthritis, muscle weakness, and gout [34].
Treatment
There are several therapeutic measures that have been used to cure the deficiencies
of LNS. Allopurinol drug is useful for the treatment of gout. It prevents muscle
weakness and renal failure in babies which is major cause of death and increases
their life span [35]. Moreover, these drugs are unaffected against mental retardation
and neurological disorders of LNS [36]. Self-injury or self-harm behavior can be
treated by using benzodiazepines, anti-convulsive drugs, neuroleptics, and
DNA or RNA
Purines
HGPRT
Guanine and
Hypoxanthine
Adenosine
Adenosine
Deaminase
Inosine
Fig. 4.2 Purine salvage pathway. In this pathway, free purine and pyrimidine bases are converted
into nucleotides. These free bases are the intermediates of DNA or RNA in degenerative pathways.
HGPRT is a transferase that catalyzes conversion of hypoxanthine to inosine monophosphate and
guanine to guanosine monophosphate
M. Shahid et al.
two brothers. They showed severe symptoms of choreoathetosis, self-harm, dystonia, and urine crystals [31]. A complete description of inheritance pattern of LNS
and elevated level of uric acid found in patients by examining the lost activity of
HPRT enzyme in RBCs. After five decades, it becomes a standard which is used to
diagnose the HPRT activity in RBCs in Lesch–Nyhan syndrome [32].
Genetics
LNS is an inborn error of metabolism having lost enzymatic activity caused by the
mutation in gene present on the chromosome Xq26 [31]. This genetic mutation is
present in newborn babies by birth [33]. Deficiency in the activity of HPRT results
in hyperuricemia that accumulate in the body and causes delayed growth, mental
retardation, arthritis, muscle weakness, and gout [34].
Treatment
There are several therapeutic measures that have been used to cure the deficiencies
of LNS. Allopurinol drug is useful for the treatment of gout. It prevents muscle
weakness and renal failure in babies which is major cause of death and increases
their life span [35]. Moreover, these drugs are unaffected against mental retardation
and neurological disorders of LNS [36]. Self-injury or self-harm behavior can be
treated by using benzodiazepines, anti-convulsive drugs, neuroleptics, and
DNA or RNA
Purines
HGPRT
Guanine and
Hypoxanthine
Adenosine
Adenosine
Deaminase
Inosine
Fig. 4.2 Purine salvage pathway. In this pathway, free purine and pyrimidine bases are converted
into nucleotides. These free bases are the intermediates of DNA or RNA in degenerative pathways.
HGPRT is a transferase that catalyzes conversion of hypoxanthine to inosine monophosphate and
guanine to guanosine monophosphate
M. Shahid et al.