Analysis of gene mutations in Chinese patients with maple syrup urine disease

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

“…That patient's brain tissue was not affected and clinical symptoms were improved by thiamine treatment, which is in line with previous reports (23). Others, however, have identified novel DBT deletions (c.372_377del6 and c.713delC) in patients with the classical form of MSUD, which were associated with serious neuropathologic symptoms (22). DBT mutations cause either the intermittent/thiamine responsive or the classic form of MSUD, depending on the nature of mutation in the second allele (23).…”

A systematic review and meta-analysis of the association between angiotensin II type 1 receptor A1166C gene polymorphism and myocardial infarction susceptibility

“…In past decades, lots of studies found that gene polymorphism might be associated with the risk of some diseases and might become a potential marker for early diagnosis of the onset of some diseases. [2][3][4][5] The angiotensin II receptor includes two subtypes: type 1 receptor (angiotensin II type 1 receptor, AT1R) and type 2 receptor. 6 The AT1R, which is the primary pathogenic effector for angiotensin II, is a member of the G-protein-coupled receptor superfamily expressed in most tissues, where receptor activation leads to vasoconstriction, water retention and vascular smooth muscle cell proliferation and hypertrophy.…”

Silico analysis of a novel mutation c.550delT in a Chinese patient with maple syrup urine disease

“…The missense mutation c.1046G>A resulting in Cys349Tyr amino acid substitution had been previously reported. 3 Yang et al found a Chinese neonate with compound heterozygous mutations c.1046G>A and c.593A>T. Although it was speculated that these two missense mutations hinder the formation of the natural E1 heterotetramer, the mutant E1 complex retained relatively high enzymatic activity, and the patient was diagnosed with intermediate form of MSUD with more slight clinical phenotypes. 3 However, the patient in this study manifested more severe classic form, perhaps due to the presence of pathogenic frameshift p.S184Pfs*46 mutation from her mother's allele.…”

“…This hinders the metabolism of the branched‐chain amino acids (BCAAs), resulting in an accumulation of BCAAs and corresponding branched‐chain α‐keto acids (BCKAs). Thus, it contributes to the MSUD symptoms such as ketoacidosis and hypoglycemia . As a mitochondrial multienzyme complex, BCKD can catalyze the oxidative decarboxylation of BCKAs .…”

“…Thus, it contributes to the MSUD symptoms such as ketoacidosis and hypoglycemia. [1][2][3] As a mitochondrial multienzyme complex, BCKD can catalyze the oxidative decarboxylation of BCKAs. 4 BCKD is composed of three catalytic components: a branched-chain α-keto acid decarboxylase (E1) formed by two E1α and two E1β subunits, a dihydrolipoyl transacylase (E2), and a dihydrolipoamide dehydrogenase (E3), encoded by the BCKDHA, BCKDHB, DBT, and DLD genes, respectively.…”