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 BCKDHA, BCKDHB, or DBT genes result in enzyme deficiency. We report the case of a female infant who pre...

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Bibliografiska uppgifter
I publikationen:Int J Neonatal Screen
Huvudupphovsmän: Sajeev, Mona, Chin, Sharon, Ho, Gladys, Bennetts, Bruce, Sankaran, Bindu Parayil, Gutierrez, Bea, Devanapalli, Beena, Tolun, Adviye Ayper, Wiley, Veronica, Fletcher, Janice, Fuller, Maria, Balasubramaniam, Shanti
Materialtyp: Artigo
Språk:Inglês
Publicerad: MDPI 2021
Ämnen:
Case Report
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC8162326/
https://ncbi.nlm.nih.gov/pubmed/34069211
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijns7020025
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