Rahman, S;
Footitt, EJ;
Varadkar, S;
Clayton, PT;
(2013)
Inborn errors of metabolism causing epilepsy.
Dev Med Child Neurol
, 55
(1)
23 - 36.
10.1111/j.1469-8749.2012.04406.x.
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Abstract
Seizures may be the first and the major presenting feature of an inborn error of metabolism (IEM), for example in a neonate with pyridoxine-dependent epilepsy. In other IEMs, seizures may be preceded by other major symptoms: by a reduced level of consciousness in a child with an organic acidaemia or urea cycle defect; or by loss of skills, progressive weakness, ataxia, and upper motor signs in a child with a lysosomal storage disorder or peroxisomal leukodystrophy. This review concentrates on those IEMs for which specific treatment is available. The common metabolic causes of seizures vary according to the age at presentation. Features from the history, examination, imaging, and first line biochemical investigations can all provide clues to an inborn error. This review attempts to delineate these and to provide a guide to the specific tests that can be used to make the diagnosis of disorders with specific treatment.
| Type: | Article |
|---|---|
| Title: | Inborn errors of metabolism causing epilepsy. |
| Location: | England |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1111/j.1469-8749.2012.04406.x |
| Publisher version: | http://dx.doi.org/10.1111/j.1469-8749.2012.04406.x |
| Language: | English |
| Additional information: | © The Authors. Developmental Medicine & Child Neurology. © 2012 Mac Keith Press. Full text made available to UCL Discovery by kind permission of Wiley. |
| Keywords: | Age Factors, Epilepsy, Humans, Infant, Metabolism, Inborn Errors, Pyridoxine, Ubiquinone |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health > Genetics and Genomic Medicine Dept |
| URI: | https://discovery.ucl.ac.uk/id/eprint/1365533 |
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