Unapparent hypoxanthine-guanine phosphoribosyltransferase deficiency
| Autor: | S. Puente, A. Menendez, R.J. Torres, N. Fernandez-Garcia |
|---|---|
| Rok vydání: | 2017 |
| Předmět: |
0301 basic medicine
Male congenital hereditary and neonatal diseases and abnormalities medicine.medical_specialty Hypoxanthine Phosphoribosyltransferase Erythrocytes cells genetic processes Clinical Biochemistry Adenine phosphoribosyltransferase Choreoathetosis Mutation Missense Biochemistry Hemolysis 03 medical and health sciences 0302 clinical medicine Internal medicine medicine Missense mutation Humans Hyperuricemia Child Genetics biology Chemistry Point mutation Biochemistry (medical) nutritional and metabolic diseases General Medicine medicine.disease Hyperuricosuria enzymes and coenzymes (carbohydrates) 030104 developmental biology Endocrinology Hypoxanthine-guanine phosphoribosyltransferase biology.protein Phosphoribosyltransferase medicine.symptom 030217 neurology & neurosurgery |
| Zdroj: | Clinica chimica acta; international journal of clinical chemistry. 472 |
| ISSN: | 1873-3492 |
| Popis: | Complete deficiency of hypoxanthine-guanine phosphoribosyltransferase (HPRT) activity causes Lesch Nyhan disease (LND), characterized by hyperuricemia, severe action dystonia, choreoathetosis, ballismus, cognitive and attention deficit and self-injurious behavior. Partial HPRT deficiency is present in patients with Lesch-Nyhan variant (LNV), who present with HPRT-related gout and a variable degree of neurological involvement. The diagnosis of HPRT deficiency relies on clinical, biochemical, enzymatic and molecular data. Patients with HPRT deficiency present low or undetectable HPRT activity in hemolysates, with increased adenine phosphoribosyltransferase (APRT) activity. We present a 9-year-old boy who experienced an episode of macroscopic hematuria with dysuria and left flank pain. He presented hyperuricemia and hyperuricosuria. HPRT and APRT activities were both normal in hemolysate; however, HPRT activity assayed in intact erythrocytes was 50% of control levels. A new missense point mutation c.424 A>G (T142A) was found in the HPRT1 gene. The apparent Michaelis constant (Km) for 5-phosphoribosyl-pyrophosphate assayed in patient hemolysate was 20-fold of control levels. In conclusion, we report a patient with HPRT deficiency who presented with both normal HPRT and APRT activity in hemolysate, in which the enzyme activity determined in intact erythrocytes was of diagnostic utility. |
| Databáze: | OpenAIRE |
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