Challenges in Diagnosing Intermediate Maple Syrup Urine Disease by Newborn Screening and Functional Validation of Genomic Results Imperative for Reproductive Family Planning

Challenges in Diagnosing Intermediate Maple Syrup Urine Disease by Newborn Screening and Functional Validation of Genomic Results Imperative for Reproductive Family Planning

Maple syrup urine disease is caused by a deficiency of branched-chain alpha-ketoacid dehydrogenase, responsible for degradation of leucine, isoleucine, and valine. Biallelic pathogenic variants in <i>BCKDHA</i>, <i>BCKDHB</i>, or <i>DBT</i> genes result in enzyme...

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Bibliographic Details
Main Authors: Mona Sajeev, Sharon Chin, Gladys Ho, Bruce Bennetts, Bindu Parayil Sankaran, Bea Gutierrez, Beena Devanapalli, Adviye Ayper Tolun, Veronica Wiley, Janice Fletcher, Maria Fuller, Shanti Balasubramaniam
Format: Article
Language:English
Published: MDPI AG 2021-05-01
Series:International Journal of Neonatal Screening
Subjects:
intermediate MSUD
VOUS
<i>DBT</i> gene
leucine decarboxylation studies
validation of pathogenicity
Online Access:https://www.mdpi.com/2409-515X/7/2/25

Internet

https://www.mdpi.com/2409-515X/7/2/25

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