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The investigation of inborn errors of metabolism as an underlying cause of idiopathic intellectual disability in adults in Norway
Author(s) -
Hope S.,
Johannessen C. H.,
Aasen N. O.,
Strømme P.
Publication year - 2016
Publication title -
european journal of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.881
H-Index - 124
eISSN - 1468-1331
pISSN - 1351-5101
DOI - 10.1111/ene.12884
Subject(s) - medicine , work up , intellectual disability , etiology , newborn screening , pediatrics , medline , magnetic resonance imaging , exome sequencing , psychiatry , intensive care medicine , radiology , mutation , biochemistry , chemistry , political science , gene , law
Background and purpose Inborn errors of metabolism ( IEM s) may be an unrecognized cause of intellectual disability ( ID ) in adults. Knowledge and techniques for investigating IEM s have evolved rapidly; therefore adult patients with idiopathic ID may benefit from an up‐to‐date aetiological work‐up. This review aims at establishing recommendations for investigating IEMs as a cause of ID in adults. Methods PubMed was searched for articles published between 2000 and 2015 regarding clinical work‐up, IEM s, ID and adults. Information compiled from 61 articles is used to give practical suggestions from a clinical point of view. Results Many IEM s that cause ID are characterized by increased risk of specific somatic, neurological and psychiatric signs. Neurometabolic investigations of ID should start with a thorough medical history, clinical examination and general screening in blood. Brain imaging with magnetic resonance imaging and if possible magnetic resonance spectroscopy should also be part of the initial work‐up. The aim is to detect abnormalities that give clues to a specific IEM . After the initial screening, a first tier of neurometabolic screening tests in blood and urine should be performed. If this fails to give diagnostic clues, a second tier of neurometabolic tests should be considered in order to secure that the treatable IEM s are detected. Whole exome sequencing techniques, when they become available in clinical settings, will offer new opportunities for detection of IEM s. Conclusion Based on a broad review of the current literature a systematic diagnostic work‐up to detect IEM s as a cause of ID in adults is suggested.