Abstract
The inborn errors of metabolism are a heterogeneous group of diseases that usually result from mutations in a gene that codes a protein which serves either as an enzyme, a transporter, a regulator of gene expression or cell signaling, or a constituent of cell structure. These disorders often impair brain development, thereby causing cognitive disability, motor dysfunction and, on occasion, a misdiagnosis of cerebral palsy. This review catalogues inborn errors of metabolism that might be so misconstrued. The review explores the multifaceted pathophysiology of these disorders and surveys those historical and laboratory features that should alert clinicians to the presence of an inborn error of metabolism. Finally, the review summarizes the current approach to treatment of these inherited diseases and suggests future therapeutic directions.
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Yudkoff, M. (2021). Inborn Errors of Metabolism as a Cause of Cerebral Palsy. In: Miller, F., Bachrach, S., Lennon, N., O'Neil, M. (eds) Cerebral Palsy. Springer, Cham. https://doi.org/10.1007/978-3-319-50592-3_4-1
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DOI: https://doi.org/10.1007/978-3-319-50592-3_4-1
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