The Biochemical Basis of HGPRT Deficiency
| Autor: | F. A. Mateos, J. G. Puig |
|---|---|
| Rok vydání: | 1993 |
| Předmět: |
medicine.medical_specialty
business.industry HGPRT deficiency Urate deposition Hyperreflexia chemistry.chemical_compound Endocrinology chemistry Hypoxanthine-guanine phosphoribosyltransferase Internal medicine Clinical heterogeneity medicine Uric acid Spasticity medicine.symptom business Purine metabolism |
| Zdroj: | Molecular Genetics, Biochemistry and Clinical Aspects of Inherited Disorders of Purine and Pyrimidine Metabolism ISBN: 9783642849640 |
| DOI: | 10.1007/978-3-642-84962-6_3 |
| Popis: | Hypoxanthine guanine phosphoribosyltransferase (E.C.2.4.2.8.; HGPRT) deficiency is associated with a marked clinical heterogeneity [1–3]. All patients with HGPRT deficiency exhibit a common characteristic: increased uric acid production [3]. However, the clinical consequences of this uric acid overproduction may differ markedly from patient to patient. This variability depends not only on the rate of uric acid production but also on the factors that determine urate precipitation, some of which remain to be fully delineated. Among the known factors associated with urate precipitation, effective hypouricemic treatment has dramatically changed the spectrum of the clinical manifestations related to urate deposition in HGPRT deficient patients. In addition, HGPRT deficiency may be associated with a neurological syndrome that in its full expression is characterized by spasticity, hyperreflexia, choreoathetoid movements, mental retardation, and compulsive self-injurious behavior (Fig.1) [4–6]. |
| Databáze: | OpenAIRE |
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