Description of the mutations in 15 subjects with variant forms of maple syrup urine disease

Abstract

The results of this study indicate that genotyping may be predictive of clinical severity of variant MSUD phenotypes and might be of prognostic value particularly in subjects with variant MSUD identified in newborn screening in whom early treatment fortunately slows the natural course of the disease.

Pleuroparenchymal fibroelastosis: the prevalence of secondary forms in hematopoietic stem cell and lung transplantation recipients

“…BCKDHB mutations were most common in neonates with the more severe classical form of MSUD in our study, which is in agreement with previous findings (21). However, other studies have reported contradictory findings: one study identified BCKDHB mutations in patients with the intermediate and thiamine-responsive forms of MSUD (22), while another observed BCKDHB mutations in patients with the intermittent or asymptomatic forms of MSUD (11). We believe that these discrepancies between the studies are tightly associated with specific sequence differences between mutations.…”

“…Depending on the involved genes, three MSUD genotypes have been identified so far: subtype 1α with mutations affecting the Eα (BCKDHA) gene, subtype 1β with mutations in the Eβ (BCK-DHB) gene and subtype II with mutations in the E2 (DBT) gene (11). Mutations that impair BCKD activity can occur in any of the catalytic components of the complex.…”

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

“…2016; 18(10):e3399. ethnicities, so that targeted mutations could be suggested for individuals of certain geographic locations [13]. Divers mutation prediction programs suggested the novel change as pathogen (Table 2) with max score indexing.…”

Two novel mutations in the BCKDHB gene (R170H, Q346R) cause the classic form of maple syrup urine disease (MSUD)

“…To date, newborn screening has been demonstrated to be an effective approach for screening MSUD patients in the several ethnic populations (Flaschker et al, 2007;Puckett et al, 2010;Quental et al, 2008;Rodríguez-Pombo et al, 2006), allowing for the early intervention with dietary treatment. The availability of crystal structures of the BCKD components makes it possible to determine the effects of novel mutations.…”