A Novel Mutation in the BCKDHB Gene Causes in an Iranian Child Classic Maple Syrup Urine Disease

Abstract

Background: Maple syrup urine disease (MSUD) is a rare metabolic disorder caused by deficiency in branched chain alpha-keto acid dehydrogenase complex (BCKD). Methods: In this study, the coding regions and flanking splice sites of the BCKDHA, BCKDHB, DBT and DLD genes have been sequenced in an Iranian 3 years old girl. Results: A novel homozygous mutation (p.Glu330Lys) was detected in the BCKDHB gene. In silico analysis showed significant change in the 3-D protein Structure. Conclusions: This alteration probably affects the structure and function of the E1β subunit of BCKD complex.

Clinical, Biochemical, Molecular, and Therapeutic Analysis of Maple Syrup Urine Disease in Upper Egypt

“…According to recent reports, the occurrence of some mutations in the MSUD causing genes depends on ethnicities, so that targeted mutations could be suggested for individuals of certain geographic locations. 15 Screening for NM_000709.3(BCKDHA):c.476G > A (p. Arg159Gln) missense mutation in the BCKDHA in the BCKADH E1 α polypeptide was done for all the study population by ASPCR. Identification of SNP showed that two patients out of the three diagnosed with MSUD in the present study were GG genotyped; however, the third was homozygous variant (AA), for the parents genotyping showed single heterozygous case (unaffected mother).…”