Twenty novel mutations in BCKDHA, BCKDHB and DBT genes in a cohort of 52 Saudi Arabian patients with maple syrup urine disease

@inproceedings{Imtiaz2017TwentyNM,
  title={Twenty novel mutations in BCKDHA, BCKDHB and DBT genes in a cohort of 52 Saudi Arabian patients with maple syrup urine disease},
  author={Faiqa Imtiaz and Abeer Al-Mostafa and Rabab Allam and Khushnooda Ramzan and Nada Al-Tassan and Asma I Tahir and Nouf S. Al-Numair and Mohamed H. Al-Hamed and Zuhair N. Al-Hassnan and Mohammad Al-Owain and Hamad Al-Zaidan and Mohammad Al-Amoudi and Alya A. Qari and Ameera S. Balobaid and Moeenaldeen D. Al-Sayed},
  booktitle={Molecular genetics and metabolism reports},
  year={2017}
}
Maple syrup urine disease (MSUD), an autosomal recessive inborn error of metabolism due to defects in the branched-chain α-ketoacid dehydrogenase (BCKD) complex, is commonly observed among other inherited metabolic disorders in the kingdom of Saudi Arabia. This report presents the results of mutation analysis of three of the four genes encoding the BCKD complex in 52 biochemically diagnosed MSUD patients originating from Saudi Arabia. The 25 mutations (20 novel) detected spanned across the… CONTINUE READING
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