Isoleucine Deficiency in a Neonate Treated for Maple Syrup U
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Case Report

A 29-year-old gravida 2, para 1 lady in a second degree consanguineous marriage presented to the clinic for prenatal testing. Her first baby had seizures in the neonatal period and was later diagnosed to have MSUD. He had global developmental delay with seizures and died at 2 years of age.

During this pregnancy, both parents were counseled about the chances of recurrence of MSUD in the baby. Sanger sequencing of branched chain keto acid dehydrogenase E1 alpha polypeptide (BCKDHA) and branched chain ketoacid dehydrogenase E1 beta polypeptide (BCKDHB) genes were done on the couple and chorionic villous sample from the fetus. All the variants were analyzed and annotated using Human (GRCh38.p3) public databases using Ensembl and HGMD (Human Gene Mutation Database). In silico analysis was performed for all the variants using SIFT (Sorting Intolerant From Tolerant) and POLYPHEN2 (Polymorphism Phenotyping version 2).

Both parents were detected to be heterozygous for the BCKDHA gene mutation (c.757 G>A; p.Ala253Ser.). Mother was heterozygous for BCKDHB variation (c.1039-5T>C.). Father did not have any variation of the BCKDHB gene. The BCKDHB variation is a novel variant of unknown significance and is not known to cause MSUD. Chorionic villous sample was homozygous for the c.757 G>A; p.Ala253Ser. mutation in the BCKDHA gene, a known mutation causing MSUD. Based on these results, a diagnosis of MSUD was made in the fetus....

http://www.indianpediatrics.net/aug2016/aug-738-740.htm
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