Treatable IEM causing intellectual disability

Posted by & filed under Part 06: DIAGNOSTIC APPROACHES, Treatment, Websites.

Dr. van Karnebeek and Dr. Stockler performed a systematic literature review for treatable inborn errors of metabolism causing intellectual disability. Recommendations for investigation of genetic causes of intellectual disability are usually based on the frequencies of single conditions and the yield of diagnostic methods. The objective of this manuscript was to identify all currently treatable inborn errors of metabolism presenting with predominantly intellectual disability so that availability of treatment is also factored in the recommendations. The authors applied Cochrane Collaboration guidelines in formulation of PICO and definitions, and searched in Pubmed (1960-2011) and relevant (online) textbooks to identify ‘all inborn errors of metabolism presenting with intellectual disability as major feature’. 81 ‘treatable inborn errors of metabolism’ presenting with intellectual disability as a major feature were identified. 62% (n=50) of all disorders are identified by metabolic screening tests in blood (plasma amino acids, homocysteine) and urine (creatine metabolites, glycosaminoglycans, oligosaccharides, organic acids, pyrimidines). For the remaining disorders (n=31) a ‘single test per single disease’ approach is required. The levels of available evidence for the various treatments ranged from Level 1b,c (n=5); Level 2a,b,c (n=14); Level 4 (n=45), Level 4-5 (n=27). The results of this work were translated into digital information tools for the clinician (www.treatable-id.org).  

Treatable inborn errors of metabolism causing intellectual disability: A systematic literature review. van Karnebeek CD, Stockler S. Mol Genet Metab. 2011 Nov 30. [Epub ahead of print] PMID: 22212131

posted by Yannis Trakadis MD, MSc

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