ArticleJournal of inherited metabolic disease2010
Study of inborn errors of metabolism in urine from patients with unexplained mental retardation.
Article in Journal of inherited metabolic disease, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 39 citations in OpenAlex.
- Genetic and metabolic investigations for neurodevelopmental disorders: position statement of the Canadian College of Medical Geneticists (CCMG).Journal of medical genetics · 2023Article
- Evaluation of Individuals with Non-Syndromic Global Developmental Delay and Intellectual Disability.Children (Basel, Switzerland) · 2023Review
- Paediatric genomic testing: Navigating medicare rebatable genomic testing.Journal of paediatrics and child health · 2021Article
- The diagnosis of inborn errors of metabolism in previously undiagnosed adults referred for medical genetics evaluation.Molecular genetics and metabolism reports · 2020Article
- Diagnosis of Mucopolysaccharidoses.Diagnostics (Basel, Switzerland) · 2020Review
- Effects of l-Carnitine in Patients with Autism Spectrum Disorders: Review of Clinical Studies.Molecules (Basel, Switzerland) · 2019Review
- InducibleInternational journal of molecular sciences · 2019Article
- Metabolic evaluation of children with global developmental delay.Korean journal of pediatrics · 2015Review
- Requirements for a minimum standard of care for phenylketonuria: the patients' perspective.Orphanet journal of rare diseases · 2013Article
- Genetic and metabolomic analysis of AdeD and AdeI mutants of de novo purine biosynthesis: cellular models of de novo purine biosynthesis deficiency disorders.Molecular genetics and metabolism · 2013Article
- Evidence for treatable inborn errors of metabolism in a cohort of 187 Greek patients with autism spectrum disorder (ASD).Frontiers in human neuroscience · 2013Article
- Molecular characterization of the AdeI mutant of Chinese hamster ovary cells: a cellular model of adenylosuccinate lyase deficiency.Molecular genetics and metabolism · 2011Article
Corrections and comments
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Authors and funding
12 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
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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