TY - JOUR
T1 - Metabolic Evaluation of Epilepsy: A Diagnostic Algorithm With Focus on Treatable Conditions
T2 - A Diagnostic Algorithm With Focus on Treatable Conditions
AU - van Karnebeek, Clara D. M.
AU - Sayson, Bryan
AU - Lee, Jessica J. Y.
AU - Tseng, Laura A.
AU - Blau, Nenad
AU - Horvath, Gabriella A.
AU - Ferreira, Carlos R.
PY - 2018/12/3
Y1 - 2018/12/3
N2 - Although inborn errors of metabolism do not represent the most common cause of seizures, their early identification is of utmost importance, since many will require therapeutic measures beyond that of common anti-epileptic drugs, either in order to control seizures, or to decrease the risk of neurodegeneration. We translate the currently-known literature on metabolic etiologies of epilepsy (268 inborn errors of metabolism belonging to 21 categories, with 74 treatable errors), into a 2-tiered diagnostic algorithm, with the first-tier comprising accessible, affordable, and less invasive screening tests in urine and blood, with the potential to identify the majority of treatable conditions, while the second-tier tests are ordered based on individual clinical signs and symptoms. This resource aims to support the pediatrician, neurologist, biochemical, and clinical geneticists in early identification of treatable inborn errors of metabolism in a child with seizures, allowing for timely initiation of targeted therapy with the potential to improve outcomes.
AB - Although inborn errors of metabolism do not represent the most common cause of seizures, their early identification is of utmost importance, since many will require therapeutic measures beyond that of common anti-epileptic drugs, either in order to control seizures, or to decrease the risk of neurodegeneration. We translate the currently-known literature on metabolic etiologies of epilepsy (268 inborn errors of metabolism belonging to 21 categories, with 74 treatable errors), into a 2-tiered diagnostic algorithm, with the first-tier comprising accessible, affordable, and less invasive screening tests in urine and blood, with the potential to identify the majority of treatable conditions, while the second-tier tests are ordered based on individual clinical signs and symptoms. This resource aims to support the pediatrician, neurologist, biochemical, and clinical geneticists in early identification of treatable inborn errors of metabolism in a child with seizures, allowing for timely initiation of targeted therapy with the potential to improve outcomes.
UR - https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85091950184&origin=inward
UR - https://www.ncbi.nlm.nih.gov/pubmed/30559706
U2 - https://doi.org/10.3389/fneur.2018.01016
DO - https://doi.org/10.3389/fneur.2018.01016
M3 - Review article
C2 - 30559706
SN - 1664-2295
VL - 9
SP - 1016
JO - Frontiers in Neurology
JF - Frontiers in Neurology
M1 - 1016
ER -