HGPRT and Aprt Activities in Hemolysates During the First Year of Life

Autor:	J Tovar, Felícitas A. Mateos, Juan G. Puig, Rosa J. Torres, D. Serfaty, Antonio Buño
Rok vydání:	1998
Předmět:	Pediatrics medicine.medical_specialty Psychomotor retardation business.industry HGPRT deficiency Adenine phosphoribosyltransferase First year of life medicine.disease Hyperuricosuria Hypoxanthine-guanine phosphoribosyltransferase medicine Hyperuricemia medicine.symptom business Medical attention
Zdroj:	Advances in Experimental Medicine and Biology ISBN: 9781461374565
DOI:	10.1007/978-1-4615-5381-6_27
Popis:	Early postnatal diagnosis of hypoxanthine guanine phosphoribosyl transferase (HGPRT) deficiency is frequently performed nowadays during the first year of life. The clinical expression of HGPRT deficiency is usually manifested by a variable psychomotor retardation between 6 and 12 months of age and may result in a variety of clinical syndromes, with markedly different neurological manifestations or even no neurological symptoms. At this age, or even earlier, parents or pediatricians may seek medical attention because they notice some developmental retardation in their child, sandy or coloured urine in the diapers, and/or because hyperuricemia and/or hyperuricosuria was discovered incidentally. Also babies belonging to a family with some male affected by this enzyme deficiency may seek early diagnosis (1).
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_________::cda96f6da7a38dc14f89db01fe9ea3dc https://doi.org/10.1007/978-1-4615-5381-6_27 Zobrazit plný text záznamu