A Scoping Review of Inborn Errors of Metabolism Causing Progressive Intellectual and Neurologic Deterioration (PIND)

Autor: Hilde A. G. Warmerdam, Elise A. Termeulen-Ferreira, Laura A. Tseng, Jessica Y. Lee, Agnies M. van Eeghen, Carlos R. Ferreira, Clara D. M. van Karnebeek

Publikováno v: Frontiers in Neurology, Vol 10 (2020)

Background: Progressive intellectual and neurological deterioration (PIND) is a rare but severe childhood disorder characterized by loss of intellectual or developmental abilities, and requires quick diagnosis to ensure timely treatment to prevent po

Externí odkaz: https://doaj.org/article/2a1cfd0458b74afe8e725d8e7ea8364e

Clinical Reasoning: Pediatric Seizures of Unknown Cause

Autor: Laura A. Tseng, Eva M.M. Hoytema van Konijnenburg, Nicola Longo, Ashley Andrews, Annemiek van Wegberg, Karlien L.M. Coene, Curtis R. Coughlin, Clara D.M. van Karnebeek

Publikováno v: Neurology, 98(24), 1023-1028. Lippincott Williams and Wilkins
Neurology, 98, 1023-1028
Neurology, 98, 24, pp. 1023-1028

We describe a neonate and a 14-month-old child presenting with seizures that were not (completely) controlled with antiepileptic medications. There were no signs of infection, and electrolytes and neuroimaging were normal. In the neonate, pyridoxine

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::758cac9a72145a1d128e3aff5162a793
https://doi.org/10.1212/wnl.0000000000200711

Treatment of ARS deficiencies with specific amino acids

Autor: Monique E. Dijsselhof, Tom J. de Koning, Laura A. Tseng, Edward E. S. Nieuwenhuis, Elise A. Ferreira, Rachel Kassel, Margreet van den Born, Holger Rehmann, Sabine A. Fuchs, Gautam Kok, Imre F. Schene, Marie Canton, Suzanne W J Terheggen-Lagro, Arnaud Wiedemann, Joy Dean, Desiree E.C. Smith, Megan Boothe, Clara D.M. van Karnebeek, Gajja Salomons, François Feillet, Marisa I. Mendes

Publikováno v: Genetics in Medicine
Genetics in medicine, 23(11), 2202-2207. Lippincott Williams and Wilkins
Kok, G, Tseng, L, Schene, I F, Dijsselhof, M E, Salomons, G, Mendes, M I, Smith, D E C, Wiedemann, A, Canton, M, Feillet, F, de Koning, T J, Boothe, M, Dean, J, Kassel, R, Ferreira, E A, van den Born, M, Nieuwenhuis, E E S, Rehmann, H, Terheggen-Lagro, S W J, van Karnebeek, C D M & Fuchs, S A 2021, ' Treatment of ARS deficiencies with specific amino acids ', Genetics in Medicine, vol. 23, no. 11, pp. 2202-2207 . https://doi.org/10.1038/s41436-021-01249-z
Genetics in Medicine, 23(11), 2202-2207. Lippincott Williams and Wilkins
Genetics in Medicine, 23(11), 2202-2207. Nature Publishing Group

Purpose: Recessive cytosolic aminoacyl-tRNA synthetase (ARS) deficiencies are severe multiorgan diseases, with limited treatment options. By loading transfer RNAs (tRNAs) with their cognate amino acids, ARS are essential for protein translation. Howe

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2012eaffda71bfe00609b875bbfe5f2b
http://europepmc.org/articles/PMC8244667

A case for newborn screening for pyridoxine-dependent epilepsy

Autor: Curtis R Coughlin, Laura A Tseng, Clara DM van Karnebeek

Publikováno v: Cold Spring Harbor molecular case studies, 8(2):a006197. Cold Spring Harbor Laboratory Press

Pyridoxine-dependent epilepsy due to mutations in ALDH7A1 (PDH-ALDH7A1) is a highly treatable developmental and epileptic encephalopathy. Pharmacologic doses of pyridoxine are associated with dramatic clinical seizure improvement, and most patients a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6dd2c68834bc5748c82bb6c0d3fb7ab0
https://pure.amc.nl/en/publications/a-case-for-newborn-screening-for-pyridoxinedependent-epilepsy(f9d9d39a-1606-42a5-8df2-eeb64d8e8416).html

Untargeted metabolomics and infrared ion spectroscopy identify biomarkers for pyridoxine-dependent epilepsy

Autor: Ron A. Wevers, Levinus A. Bok, Erik de Vrieze, Thomas J. Boltje, Laura A. Tseng, Saadet Mercimek-Andrews, Tessa M.A. Peters, Keith Hyland, Marleen C. D. G. Huigen, Giel Berden, Clara D.M. van Karnebeek, Hilal H. Al-Shekaili, Floris P.J.T. Rutjes, Arno van Rooij, Sidney M. Gospe, Fred A. M. G. van Geenen, Sanne Broekman, Jasmin Mecinović, Jona Merx, Eduard A. Struys, Michèl A.A.P. Willemsen, Jos Oomens, Erwin van Wijk, Leo A.J. Kluijtmans, Laura A. Jansen, Udo Engelke, Purva Kulkarni, Jonathan Martens, Blair R. Leavitt, Rianne E. van Outersterp, Karlien L.M. Coene

Publikováno v: Journal of Clinical Investigation, 131(15):e148272. The American Society for Clinical Investigation
Engelke, U F H, van Outersterp, R E, Merx, J, van Geenen, F A M G, van Rooij, A, Berden, G, Huigen, M C D G, Kluijtmans, L A J, Peters, T M A, Al-Shekaili, H H, Leavitt, B R, de Vrieze, E, Broekman, S, van Wijk, E, Tseng, L A, Kulkarni, P, Rutjes, F P J T, Mecinović, J, Struys, E A, Jansen, L A, Gospe, S M, Mercimek-Andrews, S, Hyland, K, Willemsen, M A A P, Bok, L A, van Karnebeek, C D M, Wevers, R A, Boltje, T J, Oomens, J, Martens, J & Coene, K L M 2021, ' Untargeted metabolomics and infrared ion spectroscopy identify biomarkers for pyridoxine-dependent epilepsy ', Journal of Clinical Investigation, vol. 131, no. 15, e148272 . https://doi.org/10.1172/JCI148272
Journal of Clinical Investigation, 131
Engelke, U F, van Outersterp, R E, Merx, J, van Geenen, F A, van Rooij, A, Berden, G, Huigen, M C, Kluijtmans, L A, Peters, T M, Al-Shekaili, H H, Leavitt, B R, de Vrieze, E, Broekman, S, van Wijk, E, Tseng, L A, Kulkarni, P, Rutjes, F P, Mecinović, J, Struys, E A, Jansen, L A, Gospe, S M, Mercimek-Andrews, S, Hyland, K, Willemsen, M A, Bok, L A, Van Karnebeek, C D, Wevers, R A, Boltje, T J, Oomens, J, Martens, J & Coene, K L 2021, ' Untargeted metabolomics and infrared ion spectroscopy identify biomarkers for pyridoxine-dependent epilepsy ', Journal of Clinical Investigation, vol. 131, no. 15, e148272 . https://doi.org/10.1172/JCI148272
Journal of Clinical Investigation, 131, 15
J Clin Invest
Journal of clinical investigation, 131(15):e148272. The American Society for Clinical Investigation

Contains fulltext : 237516.pdf (Publisher’s version ) (Open Access) BackgroundPyridoxine-dependent epilepsy (PDE-ALDH7A1) is an inborn error of lysine catabolism that presents with refractory epilepsy in newborns. Biallelic ALDH7A1 variants lead to

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::471fe467fa7a198066d44a682b4105e9
https://research.vumc.nl/en/publications/4a38f8f6-27d4-485c-ad8a-7e7e0fa52902