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01-02-2010 | Original Article

Study of inborn errors of metabolism in urine from patients with unexplained mental retardation

Authors: Angela Sempere, Angela Arias, Guillermo Farré, Judith García-Villoria, Pilar Rodríguez-Pombo, Lurdes R. Desviat, Begoña Merinero, Angels García-Cazorla, Maria A. Vilaseca, Antonia Ribes, Rafael Artuch, Jaume Campistol

Published in: Journal of Inherited Metabolic Disease | Issue 1/2010

Abstract

Mental retardation (MR) is a common disorder frequently of unknown origin. Because there are few studies regarding MR and inborn errors of metabolism (IEM), we aimed to identify patients with IEM from a cohort of 944 patients with unexplained MR. Biochemical examinations such as determination of creatine (Cr) metabolites, acylcarnitines, purine, and pyrimidines in urine were applied. We found seven patients with IEM [three with cerebral Cr deficiency syndromes (CCDS)], one with adenylosuccinate lyase (ADSL) deficiency, and three, born before the neonatal metabolic screening program in Catalonia, with phenylketonuria (PKU). All told, they represent 0.8% of the whole cohort. All of them had additional symptoms such as epilepsy, movement disorders, autism, and other psychiatric disturbances. In conclusion, in patients with MR, it is essential to perform a thorough appraisal of the associated signs and symptoms, and in most disorders, it is necessary to apply specific analyses. In some cases, it is important to achieve an early diagnosis and therapy, which may reduce the morbimortality, and to offer genetic counselling.

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Title: Study of inborn errors of metabolism in urine from patients with unexplained mental retardation
Authors: Angela Sempere
Angela Arias
Guillermo Farré
Judith García-Villoria
Pilar Rodríguez-Pombo
Lurdes R. Desviat
Begoña Merinero
Angels García-Cazorla
Maria A. Vilaseca
Antonia Ribes
Rafael Artuch
Jaume Campistol
Publication date: 01-02-2010
Publisher: Springer Netherlands
Published in: Journal of Inherited Metabolic Disease / Issue 1/2010
Print ISSN: 0141-8955
Electronic ISSN: 1573-2665
DOI: https://doi.org/10.1007/s10545-009-9004-y

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