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Rapid Sequencing-Based Diagnosis of Thiamine Metabolism Dysfunction Syndrome

by Ding, Yan , Knight, Gail , Kunard, Chris M , Mehtalia, Shyamal S , Speziale, Mark , Veeraraghavan, Narayanan , McPhail, Tim K , Nahas, Shareef A , Weir, Jacqueline , Owen, Mallory J , Defay, Thomas , Batalov, Sergey , Nespeca, Mark , Reynders, John , Lajoie, Bryan R , Lenberg, Jerica , Thomson, Vicki S , Hall, Kevin P , Hobbs, Charlotte A , Van Der Kraan, Luca , Hansen, Christian , Chowdhury, Shimul , Chau, Kevin K , Wright, Meredith S , Gilmer, Sheldon , Lefebvre, Sebastien , Fraser, Louise , Kingsmore, Stephen F , Dimmock, David P , Niemi, Anna-Kaisa , Zhu, Zhanyang

in 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

2021

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Rapid Sequencing-Based Diagnosis of Thiamine Metabolism Dysfunction Syndrome

2021

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2021

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Journal Article

Rapid Sequencing-Based Diagnosis of Thiamine Metabolism Dysfunction Syndrome

Ding, Yan,

Knight, Gail,

Kunard, Chris M,

Mehtalia, Shyamal S,

Speziale, Mark,

Veeraraghavan, Narayanan,

McPhail, Tim K,

Nahas, Shareef A,

Weir, Jacqueline,

Owen, Mallory J,

Defay, Thomas,

Batalov, Sergey,

Nespeca, Mark,

Reynders, John,

Lajoie, Bryan R,

Lenberg, Jerica,

Thomson, Vicki S,

Hall, Kevin P,

Hobbs, Charlotte A,

Van Der Kraan, Luca,

Hansen, Christian,

Chowdhury, Shimul,

Chau, Kevin K,

Wright, Meredith S,

Gilmer, Sheldon,

Lefebvre, Sebastien,

Fraser, Louise,

Kingsmore, Stephen F,

Dimmock, David P,

Niemi, Anna-Kaisa,

Zhu, Zhanyang

2021

Overview

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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Publisher

Massachusetts Medical Society

Subject

Babies

/ Brain - diagnostic imaging

/ Brain Diseases - congenital

/ Brain Diseases - genetics

/ Convulsions & seizures

/ Diagnosis

/ Encephalopathy