Condition: Maple Syrup Urine Disease


rs137852870 in BCKDHA gene and Maple Syrup Urine Disease PMID 21844576 2011 Three Korean patients with maple syrup urine disease: four novel mutations in the BCKDHA gene.

PMID 9582350 1998 Impaired assembly of E1 decarboxylase of the branched-chain alpha-ketoacid dehydrogenase complex in type IA maple syrup urine disease.

PMID 8037208 1994 Molecular basis of maple syrup urine disease: novel mutations at the E1 alpha locus that impair E1(alpha 2 beta 2) assembly or decrease steady-state E1 alpha mRNA levels of branched-chain alpha-keto acid dehydrogenase complex.

PMID 14567968 2004 Relationship of causative genetic mutations in maple syrup urine disease with their clinical expression.

PMID 21098507 2011 Phenylbutyrate therapy for maple syrup urine disease.

PMID 7883996 1995 Molecular and biochemical basis of intermediate maple syrup urine disease. Occurrence of homozygous G245R and F364C mutations at the E1 alpha locus of Hispanic-Mexican patients.

PMID 24881969 2014 Nutrition management guideline for maple syrup urine disease: an evidence- and consensus-based approach.

PMID 2703538 1989 Evidence for both a regulatory mutation and a structural mutation in a family with maple syrup urine disease.

PMID 14517957 2003 Identification of twelve novel mutations in patients with classic and variant forms of maple syrup urine disease.

PMID 2241958 1990 A T-to-A substitution in the E1 alpha subunit gene of the branched-chain alpha-ketoacid dehydrogenase complex in two cell lines derived from Menonite maple syrup urine disease patients.

PMID 1867199 1991 Occurrence of a Tyr393----Asn (Y393N) mutation in the E1 alpha gene of the branched-chain alpha-keto acid dehydrogenase complex in maple syrup urine disease patients from a Mennonite population.

PMID 16468966 2006 Elective liver transplantation for the treatment of classical maple syrup urine disease.

PMID 1885764 1991 Maple syrup urine disease in Mennonites. Evidence that the Y393N mutation in E1 alpha impedes assembly of the E1 component of branched-chain alpha-keto acid dehydrogenase complex.

PMID 11507102 2001 Natural osmolyte trimethylamine N-oxide corrects assembly defects of mutant branched-chain alpha-ketoacid decarboxylase in maple syrup urine disease.

PMID 8161368 1993 Heterogeneity of mutations in maple syrup urine disease (MSUD): screening and identification of affected E1 alpha and E1 beta subunits of the branched-chain alpha-keto-acid dehydrogenase multienzyme complex.

PMID 2060625 1991 Based on this gene structure, exon 9 contains the Tyr393----Asn mutation previously identified in the E1 alpha subunit of Mennonite and other maple syrup urine disease (MSUD) patients.

PMID 26257134 2015 Identification of mutations, genotype-phenotype correlation and prenatal diagnosis of maple syrup urine disease in Indian patients.

PMID 19480318 2009 Molecular genetics of maple syrup urine disease in the Turkish population.

PMID 2060625 1991 Structure of the gene encoding the entire mature E1 alpha subunit of human branched-chain alpha-keto acid dehydrogenase complex.

PMID 22727569 2012 Analysis of gene mutations in Chinese patients with maple syrup urine disease.

PMID 16786533 2006 Mutational spectrum of maple syrup urine disease in Spain.

PMID 19715473 2009 Maple syrup urine disease in Cypriot families: identification of three novel mutations and biochemical characterization of the p.Thr211Met mutation in the E1alpha subunit.

PMID 22593002 2012 Molecular genetic analysis of MSUD from India reveals mutations causing altered protein truncation affecting the C-termini of E1α and E1β.

PMID 17922217 2007 Description of the mutations in 15 subjects with variant forms of maple syrup urine disease.

PMID 26232051 2015 Evolution of maple syrup urine disease in patients diagnosed by newborn screening versus late diagnosis.

PMID 25255367 2015 Development of DNA confirmatory and high-risk diagnostic testing for newborns using targeted next-generation DNA sequencing.

PMID 25087612 2014 Pathogenic variants for Mendelian and complex traits in exomes of 6,517 European and African Americans: implications for the return of incidental results.

PMID 18378174 2008 Molecular and structural analyses of maple syrup urine disease and identification of a founder mutation in a Portuguese Gypsy community.

PMID 19456321 2009 Revisiting MSUD in Portuguese Gypsies: evidence for a founder mutation and for a mutational hotspot within the BCKDHA gene.

PMID 26901124 2016 Identification of six novel mutations in Iranian patients with maple syrup urine disease and their in silico analysis.

PMID 11069910 2001 Roles of active site and novel K+ ion-binding site residues in human mitochondrial branched-chain alpha-ketoacid decarboxylase/dehydrogenase.

PMID 10745006 2000 Crystal structure of human branched-chain alpha-ketoacid dehydrogenase and the molecular basis of multienzyme complex deficiency in maple syrup urine disease.

PMID 11825067 2002 Evidence of common ancestry for the maple syrup urine disease (MSUD) Y438N allele in non-Mennonite MSUD patients.

PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

PMID 10694918 1998 A nonsense mutation (R242X) in the branched-chain alpha-keto acid dehydrogenase E1alpha subunit gene (BCKDHA) as a cause of maple syrup urine disease. Mutations in brief no. 160. Online.

PMID 26830710 2016 Molecular and phenotypic characteristics of seven novel mutations causing branched-chain organic acidurias.

rs1057516799 in BCKDHB gene and Maple Syrup Urine Disease PMID 8430702 1993 Occurrence of a 2-bp (AT) deletion allele and a nonsense (G-to-T) mutant allele at the E2 (DBT) locus of six patients with maple syrup urine disease: multiple-exon skipping as a secondary effect of the mutations.

PMID 16786533 2006 Mutational spectrum of maple syrup urine disease in Spain.

PMID 22350544 2012 Wernicke-like encephalopathy during classic maple syrup urine disease decompensation.

PMID 14742428 2004 Structural and biochemical basis for novel mutations in homozygous Israeli maple syrup urine disease patients: a proposed mechanism for the thiamin-responsive phenotype.

PMID 27507644 2017 In silico analysis of novel mutations in maple syrup urine disease patients from Iran.

PMID 27682710 2016 Co-existence of phenylketonuria either with maple syrup urine disease or Sandhoff disease in two patients from Iran: emphasizing the role of consanguinity.

PMID 26786177 2016 Living related versus deceased donor liver transplantation for maple syrup urine disease.

PMID 17922217 2007 Description of the mutations in 15 subjects with variant forms of maple syrup urine disease.

PMID 19480318 2009 Molecular genetics of maple syrup urine disease in the Turkish population.

PMID 11112664 2001 Gene preference in maple syrup urine disease.

PMID 24881969 2014 Nutrition management guideline for maple syrup urine disease: an evidence- and consensus-based approach.

PMID 8161368 1993 Heterogeneity of mutations in maple syrup urine disease (MSUD): screening and identification of affected E1 alpha and E1 beta subunits of the branched-chain alpha-keto-acid dehydrogenase multienzyme complex.

PMID 11509994 2001 Maple syrup urine disease: identification and carrier-frequency determination of a novel founder mutation in the Ashkenazi Jewish population.

PMID 22326532 2012 These two novel mutations, R170H and Q346R result in the patient's clinical manifestation of the classic form of MSUD.

PMID 22326532 2012 Two novel mutations in the BCKDHB gene (R170H, Q346R) cause the classic form of maple syrup urine disease (MSUD).

PMID 20307994 2010 Maple syrup urine disease: further evidence that newborn screening may fail to identify variant forms.

PMID 17922217 2007 Among the known mutant alleles, p.Gly278Ser in the BCKDHB gene was relatively frequent and also associated with a mild MSUD variant.

PMID 14567968 2004 Relationship of causative genetic mutations in maple syrup urine disease with their clinical expression.

PMID 28830848 2018 MRI and clinical features of maple syrup urine disease: preliminary results in 10 cases.

PMID 28417071 2017 Twenty novel mutations in BCKDHA, BCKDHB and DBT genes in a cohort of 52 Saudi Arabian patients with maple syrup urine disease.

PMID 25381949 2015 A new missense mutation in the BCKDHB gene causes the classic form of maple syrup urine disease (MSUD).

PMID 26453840 2015 Eleven novel mutations of the BCKDHA, BCKDHB and DBT genes associated with maple syrup urine disease in the Chinese population: Report on eight cases.

PMID 14517957 2003 Identification of twelve novel mutations in patients with classic and variant forms of maple syrup urine disease.

PMID 4517957 1973 Cytodiagnosis of HCG-secreting choriocarcinoma of the stomach. Report of a case.

PMID 26232051 2015 Evolution of maple syrup urine disease in patients diagnosed by newborn screening versus late diagnosis.

PMID 18378174 2008 Molecular and structural analyses of maple syrup urine disease and identification of a founder mutation in a Portuguese Gypsy community.

PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

PMID 8312380 1994 Deficiency of the E1 beta subunit in the branched-chain alpha-keto acid dehydrogenase complex due to a single base substitution of the intron 5, resulting in two alternatively spliced mRNAs in a patient with maple syrup urine disease.

PMID 22593002 2012 Molecular genetic analysis of MSUD from India reveals mutations causing altered protein truncation affecting the C-termini of E1α and E1β.

PMID 19282776 2009 Targeted comparative genomic hybridization array for the detection of single- and multiexon gene deletions and duplications.

PMID 15884622 2005 Maple syrup urine disease-treatment and outcome in patients of Turkish descent in Germany.

PMID 24995870 2014 Mutations in SLC13A5 cause autosomal-recessive epileptic encephalopathy with seizure onset in the first days of life.

PMID 24772966 2013 Analysis of gene mutations among South Indian patients with maple syrup urine disease: identification of four novel mutations.

PMID 25333063 2014 Selected reaction monitoring as an effective method for reliable quantification of disease-associated proteins in maple syrup urine disease.

PMID 9375800 1997 Two new mutations in the human E1 beta subunit of branched chain alpha-ketoacid dehydrogenase associated with maple syrup urine disease.

PMID 28197878 2017 Thus the novel homozygous mutation p.Asp173Tyr and the founder homozygous mutation p.Arg168His may be responsible for the clinical presentation of the two CMSUD patients, facilitating the future genetic counselling and prenatal diagnosis.

PMID 16468966 2006 Elective liver transplantation for the treatment of classical maple syrup urine disease.

PMID 22727569 2012 Analysis of gene mutations in Chinese patients with maple syrup urine disease.

PMID 26830710 2016 Molecular and phenotypic characteristics of seven novel mutations causing branched-chain organic acidurias.

PMID 21484869 2011 Movement disorders in adult surviving patients with maple syrup urine disease.

PMID 11448970 2001 Biochemical basis of type IB (E1beta ) mutations in maple syrup urine disease. A prevalent allele in patients from the Druze kindred in Israel.

PMID 26257134 2015 Identification of mutations, genotype-phenotype correlation and prenatal diagnosis of maple syrup urine disease in Indian patients.

rs12021720 in DBT gene and Maple Syrup Urine Disease PMID 9621512 1998 Molecular basis of intermittent maple syrup urine disease: novel mutations in the E2 gene of the branched-chain alpha-keto acid dehydrogenase complex.

PMID 1847055 1991 A 17-bp insertion and a Phe215----Cys missense mutation in the dihydrolipoyl transacylase (E2) mRNA from a thiamine-responsive maple syrup urine disease patient WG-34.

PMID 24881969 2014 Nutrition management guideline for maple syrup urine disease: an evidence- and consensus-based approach.

PMID 9239422 1997 E2 transacylase-deficient (type II) maple syrup urine disease. Aberrant splicing of E2 mRNA caused by internal intronic deletions and association with thiamine-responsive phenotype.

PMID 14517957 2003 Identification of twelve novel mutations in patients with classic and variant forms of maple syrup urine disease.

PMID 16786533 2006 Mutational spectrum of maple syrup urine disease in Spain.

PMID 24772966 2013 Analysis of gene mutations among South Indian patients with maple syrup urine disease: identification of four novel mutations.

PMID 26589311 2016 Inborn Errors of Metabolism in the United Arab Emirates: Disorders Detected by Newborn Screening (2011-2014).

PMID 25255367 2015 Development of DNA confirmatory and high-risk diagnostic testing for newborns using targeted next-generation DNA sequencing.

PMID 20570198 2010 In summary, the pathogenic effect of the novel mutations is depletion of cellular protein, and the intermittent form of MSUD appears to be attributed to the residual R301C mutant protein in these patients.

PMID 24394677 2014 Intermittent maple syrup urine disease: two case reports.

PMID 27518768 2016 SSIEM 2016 Annual Symposium - Abstracts : Rome, Italy, September 2016.

PMID 21098507 2011 Phenylbutyrate therapy for maple syrup urine disease.

PMID 20307994 2010 Maple syrup urine disease: further evidence that newborn screening may fail to identify variant forms.

PMID 18378174 2008 Molecular and structural analyses of maple syrup urine disease and identification of a founder mutation in a Portuguese Gypsy community.

PMID 26257134 2015 Identification of mutations, genotype-phenotype correlation and prenatal diagnosis of maple syrup urine disease in Indian patients.

PMID 8430702 1993 Occurrence of a 2-bp (AT) deletion allele and a nonsense (G-to-T) mutant allele at the E2 (DBT) locus of six patients with maple syrup urine disease: multiple-exon skipping as a secondary effect of the mutations.

PMID 28417071 2017 Twenty novel mutations in BCKDHA, BCKDHB and DBT genes in a cohort of 52 Saudi Arabian patients with maple syrup urine disease.

PMID 16468966 2006 Elective liver transplantation for the treatment of classical maple syrup urine disease.

PMID 20639189 2010 A simple method to confirm and size deletion, duplication, and insertion mutations detected by sequence analysis.