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

Noor Azlin Azraini Che Soh

doi:10.33102/mjosht.v7i3.208

Authors

Noor Azlin Azraini Che Soh

DOI:

https://doi.org/10.33102/mjosht.v7i3.208

Keywords:

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

Abstract

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 Omar^1,4, Noor Azlin Azraini Che Soh^1,4, Wan Norlina Wan Azman^1,4, Aniza Mohammed Jelani^1,4, Noorazliyana Shafii^1,4,Rowani Mohd Rowi^2,4, Lock-Hock Ngu³

¹Department of Chemical Pathology, School of Medical Sciences, Health Campus, Universiti Sains Malaysia,16150 Kubang Kerian, Kelantan Malaysia.
²Department 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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