Rapid Sequencing-Based Diagnosis of Thiamine Metabolism Dysfunction Syndrome

Infantile encephalopathy is associated with approximately 1500 genetic diseases. Without prompt treatment, permanent neurologic injury or death may occur. Here, the genome of a patient with the condition was sequenced and a diagnosis made within 13 hours, leading to informed treatment.

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Veröffentlicht in:	The New England journal of medicine 2021-06, Vol.384 (22), p.2159-2161
Hauptverfasser:	Owen, Mallory J, Niemi, Anna-Kaisa, Dimmock, David P, Speziale, Mark, Nespeca, Mark, Chau, Kevin K, Van Der Kraan, Luca, Wright, Meredith S, Hansen, Christian, Veeraraghavan, Narayanan, Ding, Yan, Lenberg, Jerica, Chowdhury, Shimul, Hobbs, Charlotte A, Batalov, Sergey, Zhu, Zhanyang, Nahas, Shareef A, Gilmer, Sheldon, Knight, Gail, Lefebvre, Sebastien, Reynders, John, Defay, Thomas, Weir, Jacqueline, Thomson, Vicki S, Fraser, Louise, Lajoie, Bryan R, McPhail, Tim K, Mehtalia, Shyamal S, Kunard, Chris M, Hall, Kevin P, Kingsmore, Stephen F
Format:	Artikel
Sprache:	eng
Schlagworte:	Babies Brain - diagnostic imaging Brain Diseases - congenital Brain Diseases - genetics Convulsions & seizures Diagnosis Encephalopathy Genetic disorders Genomes High-Throughput Nucleotide Sequencing Humans Infant Male Metabolism Metabolism, Inborn Errors - complications Metabolism, Inborn Errors - diagnosis Metabolism, Inborn Errors - genetics Precision Medicine Thiamine Time Factors Tomography, X-Ray Computed Vitamin B Whole Genome Sequencing - methods
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Beschreibung
Zusammenfassung:	Infantile encephalopathy is associated with approximately 1500 genetic diseases. Without prompt treatment, permanent neurologic injury or death may occur. Here, the genome of a patient with the condition was sequenced and a diagnosis made within 13 hours, leading to informed treatment.
ISSN:	0028-4793 1533-4406
DOI:	10.1056/NEJMc2100365