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Unapparent hypoxanthine-guanine phosphoribosyltransferase deficiency
R J Torres1, S Puente2, A Menendez3
1Foundation for Biomedical Research, La Paz University Hospital (FIBHULP), IdiPaz, Madrid, Spain; Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Spain.
Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency diagnosis can be challenging. Enzyme activity in intact erythrocytes, not just hemolysates, is crucial for identifying HPRT deficiency and Lesch-Nyhan variant.
Area of Science:
- Biochemistry
- Genetics
- Pediatrics
Background:
- Lesch-Nyhan disease (LND) stems from complete hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency, causing neurological and behavioral issues.
- Lesch-Nyhan variant (LNV) involves partial HPRT deficiency, leading to gout and neurological symptoms.
- Standard diagnosis relies on clinical, biochemical, enzymatic, and molecular data, often showing low HPRT activity in hemolysates.
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