BACKGROUND: The identification of inborn errors of metabolism (IEM) in adults presenting with a wide range of neurological symptoms is a relatively new field in medicine. We sought to identify which treatable IEM have been diagnosed for the first time in adults and generate a protocol for metabolic screening targeting those treatable disorders. METHODS: Medline/Pubmed searches of English language literature limited to the adult age group were performed. Diseases identified through this search were then compared to previously published lists of treatable IEM in both adults and children. RESULTS: 85% of the treatable conditions known to cause global developmental delay or intellectual disability in children had reports where the diagnosis of that IEM was made in one or more adult patients with neurological symptoms. Screening tests in blood, urine, CSF and MRI can detect most of these treatable conditions but the diagnostic accuracy of these screening tests in adults is not clear. CONCLUSION: Treatable IEM need to be considered in the differential diagnosis of neurological symptoms in patients of any age.
BACKGROUND: The identification of inborn errors of metabolism (IEM) in adults presenting with a wide range of neurological symptoms is a relatively new field in medicine. We sought to identify which treatable IEM have been diagnosed for the first time in adults and generate a protocol for metabolic screening targeting those treatable disorders. METHODS: Medline/Pubmed searches of English language literature limited to the adult age group were performed. Diseases identified through this search were then compared to previously published lists of treatable IEM in both adults and children. RESULTS: 85% of the treatable conditions known to cause global developmental delay or intellectual disability in children had reports where the diagnosis of that IEM was made in one or more adult patients with neurological symptoms. Screening tests in blood, urine, CSF and MRI can detect most of these treatable conditions but the diagnostic accuracy of these screening tests in adults is not clear. CONCLUSION: Treatable IEM need to be considered in the differential diagnosis of neurological symptoms in patients of any age.
Authors: Monica F Lamoureux; Kylie Tingley; Jonathan B Kronick; Beth K Potter; Alicia K J Chan; Doug Coyle; Linda Dodds; Sarah Dyack; Annette Feigenbaum; Michael Geraghty; Jane Gillis; Cheryl Rockman-Greenberg; Aneal Khan; Julian Little; Jennifer MacKenzie; Bruno Maranda; Aizeddin Mhanni; John J Mitchell; Grant Mitchell; Anne-Marie Laberge; Murray Potter; Chitra Prasad; Komudi Siriwardena; Kathy N Speechley; Sylvia Stockler; Yannis Trakadis; Lesley Turner; Clara Van Karnebeek; Kumanan Wilson; Pranesh Chakraborty Journal: JIMD Rep Date: 2015-02-26
Authors: Laura K M Steinbusch; Ping Wang; Huub W A H Waterval; Fons A P M Stassen; Karlien L M Coene; Udo F H Engelke; Daphna D J Habets; Jörgen Bierau; Irene M L W Körver-Keularts Journal: J Inherit Metab Dis Date: 2021-05-06 Impact factor: 4.982