The Spectrum of HGPRT Deficiency
| Autor: | Felícitas A. Mateos, Antonio Buño, Juan G. Puig, Ignacio Pascual-Castroviejo, Joaquín Arcas, Rosa J. Torres |
|---|---|
| Rok vydání: | 1998 |
| Předmět: |
congenital
hereditary and neonatal diseases and abnormalities medicine.medical_specialty business.industry HGPRT deficiency Choreoathetosis Enzyme defect chemistry.chemical_compound Endocrinology chemistry Hypoxanthine-guanine phosphoribosyltransferase Internal medicine Uric acid Medicine Complete HGPRT deficiency Spasticity medicine.symptom business Uric acid excretion |
| Zdroj: | Advances in Experimental Medicine and Biology ISBN: 9781461374565 |
| DOI: | 10.1007/978-1-4615-5381-6_5 |
| Popis: | Patients with HGPRT deficiency may be phenotypically classified into two differentiated entities: (a) Lesch-Nyhan syndrome, also named “complete HGPRT deficiency”, characterized by spasticity, choreoathetosis, mental retardation, and self-mutilation behaviour,1 and (b) Kelley-Seegmiller syndrome, also named “partial HGPRT deficiency.”2 Patients with this syndrome could present either mild to severe neurological manifestations including different degrees of spasticity and mental retardation, or no neurological symptoms at all. A differential characteristic between both syndromes is that patients with the Kelley-Seegmiller syndrome do not self-mutilate, although not all patients with the Lesch-Nyhan syndrome exhibit this dramatic manifestation. |
| Databáze: | OpenAIRE |
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