PubMed:8551426 JSONTXT

{"project":"DisGeNET","denotations":[{"id":"T0","span":{"begin":1288,"end":1292},"obj":"gene:2592"},{"id":"T1","span":{"begin":1322,"end":1334},"obj":"disease:C0016952"},{"id":"T2","span":{"begin":1288,"end":1292},"obj":"gene:2592"},{"id":"T3","span":{"begin":1322,"end":1334},"obj":"disease:C0268151"}],"relations":[{"id":"R1","pred":"associated_with","subj":"T0","obj":"T1"},{"id":"R2","pred":"associated_with","subj":"T2","obj":"T3"}],"namespaces":[{"prefix":"gene","uri":"http://www.ncbi.nlm.nih.gov/gene/"},{"prefix":"disease","uri":"http://purl.bioontology.org/ontology/MEDLINEPLUS/"}],"text":"A prevalent mutation for galactosemia among black Americans.\nOBJECTIVE: To define the mutation causing galactosemia in patients of black American origin who have no galactose-1-phosphate uridyltransferase (GALT) activity in erythrocytes but good clinical outcome.\nMETHODS: We discovered a mutation caused by a C--\u003eT transition at base-pair 1158 of the GALT gene that results in a serine-to-leucine substitution at codon 135 (S135L). We developed a method with which to screen populations for its prevalence. We compared galactose-1-phosphate uridyltransferase among erythrocytes, leukocytes, and transformed lymphoblasts, as well as total body oxidation of D-(13C)-galactose to 13CO2 among three genotypes for GALT (S135L/S135L, Q188R/Q188R, and Normal/Normal).\nRESULTS: We found a 48% prevalence of the S135L mutation among 17 black American patients with classic galactosemia and a 1% prevalence in a population of 50 black Americans without galactosemia. The S135L mutation was not found in 84 white patients with G/G galactosemia nor in 87 white control subjects without galactosemia. We found normal whole body oxidation of D-(13C)-galactose by the patient homozygous for S135L and various degrees of enzyme impairment among different tissues.\nCONCLUSIONS: The S135L mutation in the GALT gene is a prevalent cause of galactosemia among black patients. Because GALT activity varies in different tissues of patients homozygous for S135L, they may have a better clinical outcome than patients who are homozygous for Q188R when both are treated from infancy."}

{"project":"DisGeNET5_variant_disease","denotations":[{"id":"8551426-8#4#9#geners111033690","span":{"begin":1266,"end":1271},"obj":"geners111033690"},{"id":"8551426-8#60#72#diseaseC0016952","span":{"begin":1322,"end":1334},"obj":"diseaseC0016952"},{"id":"8551426-8#60#72#diseaseC0268151","span":{"begin":1322,"end":1334},"obj":"diseaseC0268151"}],"relations":[{"id":"4#9#geners11103369060#72#diseaseC0016952","pred":"associated_with","subj":"8551426-8#4#9#geners111033690","obj":"8551426-8#60#72#diseaseC0016952"},{"id":"4#9#geners11103369060#72#diseaseC0268151","pred":"associated_with","subj":"8551426-8#4#9#geners111033690","obj":"8551426-8#60#72#diseaseC0268151"}],"text":"A prevalent mutation for galactosemia among black Americans.\nOBJECTIVE: To define the mutation causing galactosemia in patients of black American origin who have no galactose-1-phosphate uridyltransferase (GALT) activity in erythrocytes but good clinical outcome.\nMETHODS: We discovered a mutation caused by a C--\u003eT transition at base-pair 1158 of the GALT gene that results in a serine-to-leucine substitution at codon 135 (S135L). We developed a method with which to screen populations for its prevalence. We compared galactose-1-phosphate uridyltransferase among erythrocytes, leukocytes, and transformed lymphoblasts, as well as total body oxidation of D-(13C)-galactose to 13CO2 among three genotypes for GALT (S135L/S135L, Q188R/Q188R, and Normal/Normal).\nRESULTS: We found a 48% prevalence of the S135L mutation among 17 black American patients with classic galactosemia and a 1% prevalence in a population of 50 black Americans without galactosemia. The S135L mutation was not found in 84 white patients with G/G galactosemia nor in 87 white control subjects without galactosemia. We found normal whole body oxidation of D-(13C)-galactose by the patient homozygous for S135L and various degrees of enzyme impairment among different tissues.\nCONCLUSIONS: The S135L mutation in the GALT gene is a prevalent cause of galactosemia among black patients. Because GALT activity varies in different tissues of patients homozygous for S135L, they may have a better clinical outcome than patients who are homozygous for Q188R when both are treated from infancy."}

{"project":"NCBIDiseaseCorpus","denotations":[{"id":"T1","span":{"begin":25,"end":37},"obj":"SpecificDisease:D005693"},{"id":"T2","span":{"begin":103,"end":115},"obj":"SpecificDisease:D005693"},{"id":"T3","span":{"begin":857,"end":877},"obj":"SpecificDisease:D005693"},{"id":"T4","span":{"begin":944,"end":956},"obj":"SpecificDisease:D005693"},{"id":"T5","span":{"begin":1021,"end":1033},"obj":"SpecificDisease:D005693"},{"id":"T6","span":{"begin":1075,"end":1087},"obj":"SpecificDisease:D005693"},{"id":"T7","span":{"begin":1322,"end":1334},"obj":"SpecificDisease:D005693"}],"text":"A prevalent mutation for galactosemia among black Americans.\nOBJECTIVE: To define the mutation causing galactosemia in patients of black American origin who have no galactose-1-phosphate uridyltransferase (GALT) activity in erythrocytes but good clinical outcome.\nMETHODS: We discovered a mutation caused by a C--\u003eT transition at base-pair 1158 of the GALT gene that results in a serine-to-leucine substitution at codon 135 (S135L). We developed a method with which to screen populations for its prevalence. We compared galactose-1-phosphate uridyltransferase among erythrocytes, leukocytes, and transformed lymphoblasts, as well as total body oxidation of D-(13C)-galactose to 13CO2 among three genotypes for GALT (S135L/S135L, Q188R/Q188R, and Normal/Normal).\nRESULTS: We found a 48% prevalence of the S135L mutation among 17 black American patients with classic galactosemia and a 1% prevalence in a population of 50 black Americans without galactosemia. The S135L mutation was not found in 84 white patients with G/G galactosemia nor in 87 white control subjects without galactosemia. We found normal whole body oxidation of D-(13C)-galactose by the patient homozygous for S135L and various degrees of enzyme impairment among different tissues.\nCONCLUSIONS: The S135L mutation in the GALT gene is a prevalent cause of galactosemia among black patients. Because GALT activity varies in different tissues of patients homozygous for S135L, they may have a better clinical outcome than patients who are homozygous for Q188R when both are treated from infancy."}

{"project":"NCBI-Disease-Train","denotations":[{"id":"T639","span":{"begin":25,"end":37},"obj":"SpecificDisease"},{"id":"T640","span":{"begin":103,"end":115},"obj":"SpecificDisease"},{"id":"T641","span":{"begin":857,"end":877},"obj":"SpecificDisease"},{"id":"T642","span":{"begin":944,"end":956},"obj":"SpecificDisease"},{"id":"T643","span":{"begin":1021,"end":1033},"obj":"SpecificDisease"},{"id":"T644","span":{"begin":1075,"end":1087},"obj":"SpecificDisease"},{"id":"T645","span":{"begin":1322,"end":1334},"obj":"SpecificDisease"}],"attributes":[{"id":"A639","pred":"database_id","subj":"T639","obj":"D005693"},{"id":"A640","pred":"database_id","subj":"T640","obj":"D005693"},{"id":"A641","pred":"database_id","subj":"T641","obj":"D005693"},{"id":"A642","pred":"database_id","subj":"T642","obj":"D005693"},{"id":"A643","pred":"database_id","subj":"T643","obj":"D005693"},{"id":"A644","pred":"database_id","subj":"T644","obj":"D005693"},{"id":"A645","pred":"database_id","subj":"T645","obj":"D005693"}],"text":"A prevalent mutation for galactosemia among black Americans.\nOBJECTIVE: To define the mutation causing galactosemia in patients of black American origin who have no galactose-1-phosphate uridyltransferase (GALT) activity in erythrocytes but good clinical outcome.\nMETHODS: We discovered a mutation caused by a C--\u003eT transition at base-pair 1158 of the GALT gene that results in a serine-to-leucine substitution at codon 135 (S135L). We developed a method with which to screen populations for its prevalence. We compared galactose-1-phosphate uridyltransferase among erythrocytes, leukocytes, and transformed lymphoblasts, as well as total body oxidation of D-(13C)-galactose to 13CO2 among three genotypes for GALT (S135L/S135L, Q188R/Q188R, and Normal/Normal).\nRESULTS: We found a 48% prevalence of the S135L mutation among 17 black American patients with classic galactosemia and a 1% prevalence in a population of 50 black Americans without galactosemia. The S135L mutation was not found in 84 white patients with G/G galactosemia nor in 87 white control subjects without galactosemia. We found normal whole body oxidation of D-(13C)-galactose by the patient homozygous for S135L and various degrees of enzyme impairment among different tissues.\nCONCLUSIONS: The S135L mutation in the GALT gene is a prevalent cause of galactosemia among black patients. Because GALT activity varies in different tissues of patients homozygous for S135L, they may have a better clinical outcome than patients who are homozygous for Q188R when both are treated from infancy."}

{"project":"NCBI-Disease-Corpus-All","denotations":[{"id":"T639","span":{"begin":25,"end":37},"obj":"SpecificDisease"},{"id":"T640","span":{"begin":103,"end":115},"obj":"SpecificDisease"},{"id":"T641","span":{"begin":857,"end":877},"obj":"SpecificDisease"},{"id":"T642","span":{"begin":944,"end":956},"obj":"SpecificDisease"},{"id":"T643","span":{"begin":1021,"end":1033},"obj":"SpecificDisease"},{"id":"T644","span":{"begin":1075,"end":1087},"obj":"SpecificDisease"},{"id":"T645","span":{"begin":1322,"end":1334},"obj":"SpecificDisease"}],"attributes":[{"id":"A639","pred":"database_id","subj":"T639","obj":"D005693"},{"id":"A640","pred":"database_id","subj":"T640","obj":"D005693"},{"id":"A641","pred":"database_id","subj":"T641","obj":"D005693"},{"id":"A642","pred":"database_id","subj":"T642","obj":"D005693"},{"id":"A643","pred":"database_id","subj":"T643","obj":"D005693"},{"id":"A644","pred":"database_id","subj":"T644","obj":"D005693"},{"id":"A645","pred":"database_id","subj":"T645","obj":"D005693"}],"text":"A prevalent mutation for galactosemia among black Americans.\nOBJECTIVE: To define the mutation causing galactosemia in patients of black American origin who have no galactose-1-phosphate uridyltransferase (GALT) activity in erythrocytes but good clinical outcome.\nMETHODS: We discovered a mutation caused by a C--\u003eT transition at base-pair 1158 of the GALT gene that results in a serine-to-leucine substitution at codon 135 (S135L). We developed a method with which to screen populations for its prevalence. We compared galactose-1-phosphate uridyltransferase among erythrocytes, leukocytes, and transformed lymphoblasts, as well as total body oxidation of D-(13C)-galactose to 13CO2 among three genotypes for GALT (S135L/S135L, Q188R/Q188R, and Normal/Normal).\nRESULTS: We found a 48% prevalence of the S135L mutation among 17 black American patients with classic galactosemia and a 1% prevalence in a population of 50 black Americans without galactosemia. The S135L mutation was not found in 84 white patients with G/G galactosemia nor in 87 white control subjects without galactosemia. We found normal whole body oxidation of D-(13C)-galactose by the patient homozygous for S135L and various degrees of enzyme impairment among different tissues.\nCONCLUSIONS: The S135L mutation in the GALT gene is a prevalent cause of galactosemia among black patients. Because GALT activity varies in different tissues of patients homozygous for S135L, they may have a better clinical outcome than patients who are homozygous for Q188R when both are treated from infancy."}

{"project":"NCBI-Disease-Corpus-2stage-All","denotations":[{"id":"T1","span":{"begin":25,"end":37},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":103,"end":115},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":865,"end":877},"obj":"SpecificDisease"},{"id":"T4","span":{"begin":944,"end":956},"obj":"SpecificDisease"},{"id":"T5","span":{"begin":1021,"end":1033},"obj":"SpecificDisease"},{"id":"T6","span":{"begin":1075,"end":1087},"obj":"SpecificDisease"},{"id":"T7","span":{"begin":1322,"end":1334},"obj":"SpecificDisease"}],"text":"A prevalent mutation for galactosemia among black Americans.\nOBJECTIVE: To define the mutation causing galactosemia in patients of black American origin who have no galactose-1-phosphate uridyltransferase (GALT) activity in erythrocytes but good clinical outcome.\nMETHODS: We discovered a mutation caused by a C--\u003eT transition at base-pair 1158 of the GALT gene that results in a serine-to-leucine substitution at codon 135 (S135L). We developed a method with which to screen populations for its prevalence. We compared galactose-1-phosphate uridyltransferase among erythrocytes, leukocytes, and transformed lymphoblasts, as well as total body oxidation of D-(13C)-galactose to 13CO2 among three genotypes for GALT (S135L/S135L, Q188R/Q188R, and Normal/Normal).\nRESULTS: We found a 48% prevalence of the S135L mutation among 17 black American patients with classic galactosemia and a 1% prevalence in a population of 50 black Americans without galactosemia. The S135L mutation was not found in 84 white patients with G/G galactosemia nor in 87 white control subjects without galactosemia. We found normal whole body oxidation of D-(13C)-galactose by the patient homozygous for S135L and various degrees of enzyme impairment among different tissues.\nCONCLUSIONS: The S135L mutation in the GALT gene is a prevalent cause of galactosemia among black patients. Because GALT activity varies in different tissues of patients homozygous for S135L, they may have a better clinical outcome than patients who are homozygous for Q188R when both are treated from infancy."}

{"project":"NCBI-Disease-Corpus-rezarta-All","denotations":[{"id":"T1","span":{"begin":25,"end":37},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":103,"end":115},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":857,"end":877},"obj":"SpecificDisease"},{"id":"T4","span":{"begin":944,"end":956},"obj":"SpecificDisease"},{"id":"T5","span":{"begin":1017,"end":1033},"obj":"SpecificDisease"},{"id":"T6","span":{"begin":1075,"end":1087},"obj":"SpecificDisease"},{"id":"T7","span":{"begin":1322,"end":1334},"obj":"SpecificDisease"}],"text":"A prevalent mutation for galactosemia among black Americans.\nOBJECTIVE: To define the mutation causing galactosemia in patients of black American origin who have no galactose-1-phosphate uridyltransferase (GALT) activity in erythrocytes but good clinical outcome.\nMETHODS: We discovered a mutation caused by a C--\u003eT transition at base-pair 1158 of the GALT gene that results in a serine-to-leucine substitution at codon 135 (S135L). We developed a method with which to screen populations for its prevalence. We compared galactose-1-phosphate uridyltransferase among erythrocytes, leukocytes, and transformed lymphoblasts, as well as total body oxidation of D-(13C)-galactose to 13CO2 among three genotypes for GALT (S135L/S135L, Q188R/Q188R, and Normal/Normal).\nRESULTS: We found a 48% prevalence of the S135L mutation among 17 black American patients with classic galactosemia and a 1% prevalence in a population of 50 black Americans without galactosemia. The S135L mutation was not found in 84 white patients with G/G galactosemia nor in 87 white control subjects without galactosemia. We found normal whole body oxidation of D-(13C)-galactose by the patient homozygous for S135L and various degrees of enzyme impairment among different tissues.\nCONCLUSIONS: The S135L mutation in the GALT gene is a prevalent cause of galactosemia among black patients. Because GALT activity varies in different tissues of patients homozygous for S135L, they may have a better clinical outcome than patients who are homozygous for Q188R when both are treated from infancy."}

{"project":"NCBI-Disease-Corpus-4oGuideline-All","denotations":[{"id":"T1","span":{"begin":25,"end":37},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":103,"end":115},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":857,"end":877},"obj":"SpecificDisease"},{"id":"T4","span":{"begin":944,"end":956},"obj":"SpecificDisease"},{"id":"T5","span":{"begin":1021,"end":1033},"obj":"SpecificDisease"},{"id":"T6","span":{"begin":1075,"end":1087},"obj":"SpecificDisease"},{"id":"T7","span":{"begin":1322,"end":1334},"obj":"SpecificDisease"}],"text":"A prevalent mutation for galactosemia among black Americans.\nOBJECTIVE: To define the mutation causing galactosemia in patients of black American origin who have no galactose-1-phosphate uridyltransferase (GALT) activity in erythrocytes but good clinical outcome.\nMETHODS: We discovered a mutation caused by a C--\u003eT transition at base-pair 1158 of the GALT gene that results in a serine-to-leucine substitution at codon 135 (S135L). We developed a method with which to screen populations for its prevalence. We compared galactose-1-phosphate uridyltransferase among erythrocytes, leukocytes, and transformed lymphoblasts, as well as total body oxidation of D-(13C)-galactose to 13CO2 among three genotypes for GALT (S135L/S135L, Q188R/Q188R, and Normal/Normal).\nRESULTS: We found a 48% prevalence of the S135L mutation among 17 black American patients with classic galactosemia and a 1% prevalence in a population of 50 black Americans without galactosemia. The S135L mutation was not found in 84 white patients with G/G galactosemia nor in 87 white control subjects without galactosemia. We found normal whole body oxidation of D-(13C)-galactose by the patient homozygous for S135L and various degrees of enzyme impairment among different tissues.\nCONCLUSIONS: The S135L mutation in the GALT gene is a prevalent cause of galactosemia among black patients. Because GALT activity varies in different tissues of patients homozygous for S135L, they may have a better clinical outcome than patients who are homozygous for Q188R when both are treated from infancy."}

{"project":"NCBI-Disease-Corpus-Simple-All","denotations":[{"id":"T1","span":{"begin":25,"end":37},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":103,"end":115},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":165,"end":220},"obj":"SpecificDisease"},{"id":"T4","span":{"begin":520,"end":559},"obj":"SpecificDisease"},{"id":"T5","span":{"begin":857,"end":877},"obj":"SpecificDisease"},{"id":"T6","span":{"begin":944,"end":956},"obj":"SpecificDisease"},{"id":"T7","span":{"begin":1021,"end":1033},"obj":"SpecificDisease"},{"id":"T8","span":{"begin":1075,"end":1087},"obj":"SpecificDisease"},{"id":"T9","span":{"begin":1322,"end":1334},"obj":"SpecificDisease"}],"text":"A prevalent mutation for galactosemia among black Americans.\nOBJECTIVE: To define the mutation causing galactosemia in patients of black American origin who have no galactose-1-phosphate uridyltransferase (GALT) activity in erythrocytes but good clinical outcome.\nMETHODS: We discovered a mutation caused by a C--\u003eT transition at base-pair 1158 of the GALT gene that results in a serine-to-leucine substitution at codon 135 (S135L). We developed a method with which to screen populations for its prevalence. We compared galactose-1-phosphate uridyltransferase among erythrocytes, leukocytes, and transformed lymphoblasts, as well as total body oxidation of D-(13C)-galactose to 13CO2 among three genotypes for GALT (S135L/S135L, Q188R/Q188R, and Normal/Normal).\nRESULTS: We found a 48% prevalence of the S135L mutation among 17 black American patients with classic galactosemia and a 1% prevalence in a population of 50 black Americans without galactosemia. The S135L mutation was not found in 84 white patients with G/G galactosemia nor in 87 white control subjects without galactosemia. We found normal whole body oxidation of D-(13C)-galactose by the patient homozygous for S135L and various degrees of enzyme impairment among different tissues.\nCONCLUSIONS: The S135L mutation in the GALT gene is a prevalent cause of galactosemia among black patients. Because GALT activity varies in different tissues of patients homozygous for S135L, they may have a better clinical outcome than patients who are homozygous for Q188R when both are treated from infancy."}