In silico prediction of the pathogenic effect of a novel variant of BCKDHA leading to classical maple syrup urine disease identified using clinical exome sequencing.

doi:10.1016/j.cca.2018.04.020

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Article

In silico prediction of the pathogenic effect of a novel variant of BCKDHA leading to classical maple syrup urine disease identified using clinical exome sequencing.

Clinica chimica acta; international journal of clinical chemistry - 1 Aug 2018

Fernández-Lainez Cynthia, Aláez-Verson Carmen, Ibarra-González Isabel, Enríquez-Flores Sergio, Carrillo-Sanchez Karol, Flores-Lagunes Leonardo, Guillén-López Sara, Belmont-Martínez Leticia, Vela-Amieva Marcela

Abstract excerpt

Maple syrup urine disease (MSUD) is a metabolic disorder caused by mutations in three of the branched-chain α-keto acid dehydrogenase complex (BCKDC) genes. Classical MSUD symptom can be observed immediately after birth and include ketoacidosis, irritability, lethargy, and coma, which can lead to death or irreversible neurodevelopmental delay in survivors. The molecular diagnosis of MSUD can be time-consuming and...

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PMID: 29673582
DOI: 10.1016/j.cca.2018.04.020

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BCKDHA

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