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

• Main Authors: Mona Sajeev (Author), Sharon Chin (Author), Gladys Ho (Author), Bruce Bennetts (Author), Bindu Parayil Sankaran (Author), Bea Gutierrez (Author), Beena Devanapalli (Author), Adviye Ayper Tolun (Author), Veronica Wiley (Author), Janice Fletcher (Author), Maria Fuller (Author), Shanti Balasubramaniam (Author)
• Format: Book
• Published: MDPI AG, 2021-05-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...