The diagnosis of HPRT deficiency in the 21st century.
Nucleosides Nucleotides Nucleic Acids
; 27(6): 564-9, 2008 Jun.
Article
in En
| MEDLINE
| ID: mdl-18600505
ABSTRACT
We have studied 36 patients with HPRT deficiency, 25 with Lesch-Nyhan syndrome and 11 with partial HPRT deficiency (grades 1 to 3). Patients diagnosed with HPRT deficiency have increased 50% since 2000. The most relevant recent advances have been made in molecular diagnosis. Nevertheless, enzyme determinations are still essential for the diagnosis of HPRT deficiency. Therapy for the neurological manifestations of HPRT deficiency has not advanced. Allopurinol remains the drug of choice to diminish uric acid overproduction, but the optimal allopurinol dose must be established in each patient to prevent xanthine or uric acid urolithiasis, a process aided by sequential determination of urinary oxypurines and uric acid.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Hypoxanthine Phosphoribosyltransferase
/
Lesch-Nyhan Syndrome
Type of study:
Diagnostic_studies
Limits:
Adolescent
/
Child, preschool
/
Humans
Language:
En
Journal:
Nucleosides Nucleotides Nucleic Acids
Journal subject:
BIOQUIMICA
Year:
2008
Document type:
Article
Affiliation country:
España