Rapid Sequencing-Based Diagnosis of Thiamine Metabolism Dysfunction Syndrome

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

doi:10.1056/nejmc2100365

Key Points

To evaluate the clinical utility of rapid whole-genome sequencing for the prompt identification and management of rare, treatable infantile encephalopathies.
Performed rapid whole-genome sequencing in an infant presenting with acute, severe encephalopathy.
Screened genomic variants across known loci associated with infantile encephalopathies and neurometabolic conditions.
Rapid sequencing identified pathogenic variants confirming thiamine metabolism dysfunction syndrome.
Expedited genomic diagnosis facilitated immediate, disease-specific therapy to avert irreversible neurologic injury and mortality.

Implication

Case study demonstrates rapid genome sequencing diagnosing metabolic encephalopathy in an infant, highlighting how swift diagnosis enables targeted therapy to prevent neurologic damage.

Abstract

Speedy Genetic Diagnosis Infantile encephalopathy is associated with approximately 1500 genetic diseases. Without prompt treatment, permanent neurologic injury or death may occur. Here, the genome ...

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Cite This Study

Owen et al. (2021) studied this question.

synapsesocial.com/papers/6a75ab11756843cacbb2214d https://doi.org/10.1056/nejmc2100365

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Rapid Sequencing-Based Diagnosis of Thiamine Metabolism Dysfunction Syndrome

Key Points

Implication

Abstract

Discussion

Cite This Study

Rapid Sequencing-Based Diagnosis of Thiamine Metabolism Dysfunction Syndrome

Key Points

Implication

Abstract

Discussion

Cite This Study

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