Short variant analysis didn’t reveal any variants in either of BCKDHA, BCKDHB, DBT or DLD genes supporting the Sanger sequencing analysis; however, a previously reported homozygous likely pathogenic variant was detected in the RARS2 gene (NM_020320.5:c.1026G > A;p.(Met342Ile))27 causing the mitochondrial encephalopathy disorder pontocerebellar hypoplasia, type 6 (OMIM# 611523), whose clinical phenotype overlaps with MSUD. Here, DLD is linked to pontocerebellar hypoplasia type 6.