Treatable inborn errors of metabolism causing neurological symptoms in adults

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 ta...

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Bibliographic Details
Published in:Molecular genetics and metabolism 2013-12, Vol.110 (4), p.431-438
Main Authors: Sirrs, S.M., Lehman, A., Stockler, S., van Karnebeek, C.D.M.
Format: Article
Language:English
Subjects:
Adult
Adults
Diagnosis, Differential
Humans
Inborn errors of metabolism
Intellectual Disability - etiology
Intellectual Disability - pathology
MEDLINE
Metabolism, Inborn Errors - complications
Metabolism, Inborn Errors - pathology
Metabolism, Inborn Errors - therapy
Nervous System Diseases - etiology
Nervous System Diseases - pathology
Nervous System Diseases - therapy
Neurologic diseases
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Summary: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. 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. 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. Treatable IEM need to be considered in the differential diagnosis of neurological symptoms in patients of any age. •Almost any inborn error of metabolism can be diagnosed for the first time in adults.•Adult phenotypes of inborn errors of metabolism are diverse and poorly defined.•Tests to rule out treatable disorders are needed in adults with undiagnosed neurological symptoms.
ISSN:1096-7192
1096-7206
DOI:10.1016/j.ymgme.2013.10.002