Infantile Leigh-like syndrome caused by SLC19A3 mutations is a treatable disease

Affiliations

¹ 1 Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany 2 Institute of Human Genetics, Technische Universität München, 81675 Munich, Germany.
² 3 Department of Diagnostic and Interventional Radiology, Heinrich-Heine University, Düsseldorf, Germany.
³ 4 Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital, Heinrich-Heine University, Düsseldorf, Germany.
⁴ 1 Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany 2 Institute of Human Genetics, Technische Universität München, 81675 Munich, Germany felix.distelmaier@med.uni-duesseldorf.de Prokisch@helmholtz-muenchen.de.
⁵ 4 Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital, Heinrich-Heine University, Düsseldorf, Germany felix.distelmaier@med.uni-duesseldorf.de Prokisch@helmholtz-muenchen.de.

Comment

Tobias B Haack et al. Brain. 2014 Sep.

. 2014 Sep;137(Pt 9):e295.

doi: 10.1093/brain/awu128. Epub 2014 May 30.

¹ 1 Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany 2 Institute of Human Genetics, Technische Universität München, 81675 Munich, Germany.
² 3 Department of Diagnostic and Interventional Radiology, Heinrich-Heine University, Düsseldorf, Germany.
³ 4 Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital, Heinrich-Heine University, Düsseldorf, Germany.
⁴ 1 Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany 2 Institute of Human Genetics, Technische Universität München, 81675 Munich, Germany felix.distelmaier@med.uni-duesseldorf.de Prokisch@helmholtz-muenchen.de.
⁵ 4 Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital, Heinrich-Heine University, Düsseldorf, Germany felix.distelmaier@med.uni-duesseldorf.de Prokisch@helmholtz-muenchen.de.

No abstract available

Comment in

Reply: Infantile Leigh-like syndrome caused by SLC19A3 mutations is a treatable disease.
van der Knaap MS, Kevelam SH. van der Knaap MS, et al. Brain. 2014 Sep;137(Pt 9):e297. doi: 10.1093/brain/awu130. Epub 2014 May 30. Brain. 2014. PMID: 24878500 No abstract available.
Reply: Infantile Leigh-like syndrome caused by SLC19A3 mutations is a treatable disease.
Gerards M, de Coo R, Smeets H. Gerards M, et al. Brain. 2014 Sep;137(Pt 9):e296. doi: 10.1093/brain/awu129. Epub 2014 May 30. Brain. 2014. PMID: 24878501 No abstract available.

Exome sequencing reveals a novel Moroccan founder mutation in SLC19A3 as a new cause of early-childhood fatal Leigh syndrome.
Gerards M, Kamps R, van Oevelen J, Boesten I, Jongen E, de Koning B, Scholte HR, de Angst I, Schoonderwoerd K, Sefiani A, Ratbi I, Coppieters W, Karim L, de Coo R, van den Bosch B, Smeets H. Gerards M, et al. Brain. 2013 Mar;136(Pt 3):882-90. doi: 10.1093/brain/awt013. Epub 2013 Feb 18. Brain. 2013. PMID: 23423671
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