DISEASE PROFILE OF MAPLE SYRUP URINE DISORDER: A MUTATION IN BRANCHED-CHAIN ALPHA-KETO ACID DEHYDROGENASE COMPLEX FORMING GENES

Sikander Ali, Sana Altaf* and Syeda Michelle Naqvi

ABSTRACT

The name of maple syrup urine disease is derived from the sweet scent of patient’s urine, this smell is somewhat like burned sugar (maple syrup), hence, “maple syrup urine disease”. Occurrence of MSUD is 1 out of every 85000 infants in USA. The cause of MSUD is the unavailability of a branched chain alpha keto dehydrogenase which would have catalyzed the decarboxylation of alpha keto acids like Leucine, Isoleucine and Valine. These BCAAs (Branched Chain Amino Acids) accumulate alongwith their corresponding alpha keto acids and contribute to such phenotypic effects. Mutation in the genes coding for BCKDHA is responsible for such cause. Patients of MSUD are under the risk of poor metabolism when there is increased protein catabolism. Despite all the preventions and attention the infant may suffer from zinc deficiency, osteoporosis, spinal compression and myelopathy. The diagnosis of MSUD is recommended to be done right after birth. A blood test showing abnormal centralization of amino acids is enough to confirm MSUD. Treatment of this disease includes the intravenous organization ofamino acids which contain no BCAAs and making the use of accumulated amino acids.

Keywords: The name of maple syrup Leucine, Valine.