DBT Gene Mutation Among Maple Syrup Urine Disease (MSUD) In Malaysian Population

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  • Noor Azlin Azraini Che Soh




Maple syrup urine disease, MSUD, BCAA, DBT gene, founder mutation


Maple syrup urine disease (MSUD) is an autosomal recessive genetic disease and an inherited autosomal recessive trait. It is characterised by a deficiency of an enzyme complex, resulting in an excess of branched-chain amino acids (BCAAs), which are toxic to the nervous system. Our four cases generally presented with lethargy and poor feeding weeks after birth. They were all treated for sepsis until the laboratory results showed high levels of BCAAs, which indicated MSUD. Genetic analysis showed that the four cases were homozygous for the DBT gene mutation c.1196C>G (p.S399C), a possible founder mutation. All of our cases were managed accordingly, with regular monitoring of the BCAA levels. Dietary support, with infant formulas free of BCAAs, was provided to all four cases with regular follow-up at the paediatric genetic clinic. All cases had spastic diplegic and developmental delays.


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Author Biography

Noor Azlin Azraini Che Soh


Authors for this article are:

Julia Omar1,4, Noor Azlin Azraini Che Soh1,4, Wan Norlina Wan Azman1,4, Aniza Mohammed Jelani1,4, Noorazliyana Shafii1,4, Rowani Mohd Rowi2,4, Lock-Hock Ngu3

1Department of Chemical Pathology, School of Medical Sciences, Health Campus, Universiti Sains Malaysia,16150 Kubang Kerian, Kelantan Malaysia.
2 Department of Paediatrics, School of Medical Sciences, Universiti Sains Malaysia, 16150 Kubang Kerian, Kelantan, Malaysia.  
3Molecular Genetic Department, Kuala Lumpur Hospital, Jalan Pahang, 50588 Kuala Lumpur, Malaysia.
4Hospital Universiti Sains Malaysia, Jalan Raja Perempuan Zainab 2, 16150 Kota Bharu Kelantan, Malaysia.


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DOI: 10.33102/mjosht.v7i3.208
Published: 2021-09-01

How to Cite

Che Soh, N. A. A. (2021). DBT Gene Mutation Among Maple Syrup Urine Disease (MSUD) In Malaysian Population. Malaysian Journal of Science Health & Technology, 7(3), 67–73. https://doi.org/10.33102/mjosht.v7i3.208