2013
DOI: 10.1007/8904_2013_225
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Novel Deletion Mutation Identified in a Patient with Late-Onset Combined Methylmalonic Acidemia and Homocystinuria, cblC Type

Abstract: Combined methylmalonic aciduria and homocystinuria, cblC type (MMACHC), is the most common inborn error of cellular vitamin B 12 metabolism and is caused by mutations in the MMACHC gene. This metabolic disease results in impaired intracellular synthesis of adenosylcobalamin and methylcobalamin, coenzymes for the methylmalonyl-CoA mutase and methionine synthase enzymes, respectively. The inability to produce normal levels of these two coenzymes leads to increased concentrations of methylmalonic acid and homocys… Show more

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Cited by 13 publications
(10 citation statements)
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“…References: Fischer et al 2014; Al Essa et al 1999; Al Tawari et al 2002; Alfadhel et al 2011; Andersson et al 1999; Andersson and Shapira 1998; Arai and Osaka 2011; Arn et al 1998; Atkinson et al 2014; Augoustides-Savvopoulou et al 1999; Backe et al 2013; Baumgartner et al 1979a; Baumgartner et al 1979b; Beauchamp et al 2009; Bellini et al 1992; Ben-Shachar et al 2012; Biancheri et al 2002; Biancheri et al 2001; Biotti et al 2014; Birnbaum et al 2008; Bishop et al 2008; Brandstetter et al 1990; Broomfield et al 2014; Brunel-Guitton et al 2010; Brunelli et al 2002; Cappuccio et al 2014; Carmel et al 1980; Carmel et al 1988; Carrillo-Carrasco et al 2009; Carrillo-Carrasco et al 2012a, b; Cerone et al 2000; Chang et al 2011; Clayton et al 1986; Coelho et al 2008; Cogan et al 1980; D’Aco et al 2014; D’Alessandro et al 2010; De Bie et al 2009; Dionisi-Vici et al 2013; Ellaway et al 1998; Engelbrecht et al 1997; Enns et al 1999; Fuchs et al 2012; Geraghty et al 1992; Gerth et al 2008; Goodman et al 1970; Goyette et al 1996; Goyette et al 1995; Goyette et al 1994; Grant et al 2009; Grünert et al 2011; Guigonis et al 2005; Gulati et al 1997; Haan et al 1985; Harding et al 1997; Harpey et al 1981; Haworth et al 1993; Holme and Ronge 1989; Howard et al 1997; Huemer et al 2005, 2014, 2015a, b; Hyland et al 1988; Kanwar et al 1976; Kind et al 2002; Lesesve and Latger-Cannard 2013; Levy et al 1970; Longo et al 2005; Lossos...…”
Section: Methodsmentioning
confidence: 99%
“…References: Fischer et al 2014; Al Essa et al 1999; Al Tawari et al 2002; Alfadhel et al 2011; Andersson et al 1999; Andersson and Shapira 1998; Arai and Osaka 2011; Arn et al 1998; Atkinson et al 2014; Augoustides-Savvopoulou et al 1999; Backe et al 2013; Baumgartner et al 1979a; Baumgartner et al 1979b; Beauchamp et al 2009; Bellini et al 1992; Ben-Shachar et al 2012; Biancheri et al 2002; Biancheri et al 2001; Biotti et al 2014; Birnbaum et al 2008; Bishop et al 2008; Brandstetter et al 1990; Broomfield et al 2014; Brunel-Guitton et al 2010; Brunelli et al 2002; Cappuccio et al 2014; Carmel et al 1980; Carmel et al 1988; Carrillo-Carrasco et al 2009; Carrillo-Carrasco et al 2012a, b; Cerone et al 2000; Chang et al 2011; Clayton et al 1986; Coelho et al 2008; Cogan et al 1980; D’Aco et al 2014; D’Alessandro et al 2010; De Bie et al 2009; Dionisi-Vici et al 2013; Ellaway et al 1998; Engelbrecht et al 1997; Enns et al 1999; Fuchs et al 2012; Geraghty et al 1992; Gerth et al 2008; Goodman et al 1970; Goyette et al 1996; Goyette et al 1995; Goyette et al 1994; Grant et al 2009; Grünert et al 2011; Guigonis et al 2005; Gulati et al 1997; Haan et al 1985; Harding et al 1997; Harpey et al 1981; Haworth et al 1993; Holme and Ronge 1989; Howard et al 1997; Huemer et al 2005, 2014, 2015a, b; Hyland et al 1988; Kanwar et al 1976; Kind et al 2002; Lesesve and Latger-Cannard 2013; Levy et al 1970; Longo et al 2005; Lossos...…”
Section: Methodsmentioning
confidence: 99%
“…Among these, two cases (Patient 29 and 30) were asymptomatic and the disease onset corresponded to the age at which the typical biochemical abnormalities of the disease were first noticed. One clinically asymptomatic female (Patient 29) was identified thanks to her child’s newborn screening showing low carnitine [ 13 ]. One apparently clinically asymptomatic male (Patient 30) patient was identified after diagnosis of his symptomatic sibling [ 14 ].…”
Section: Case Reportmentioning
confidence: 99%
“…CblC is the most common congenital disorder of intracellular cobalamin metabolism and is characterized by combined MMA and homocystinuria ( 4 ). It is clinically divided into two main forms according to the age of onset ( 5 , 6 ).…”
Section: Introductionmentioning
confidence: 99%
“…Since the discovery of the DNA double helix structure and the development of DNA sequencing methods, including Sanger sequencing, the area of genome sequencing has advanced with regard to research applications and clinical diagnostics. The advent of next generation sequencing (NGS) has revolutionized the field of genomic medicine and enabled efficient and accurate analysis of associated genes in hereditary diseases, including renal pathologies and neuromuscular disorders ( 2 4 , 6 , 7 ). Using a small amount of DNA from patients, multigene mutational profiling may be conducted with bioinformatics tools, which is now widely used in the identification of causative genes and undiagnosed early-onset disorders ( 8 , 9 ).…”
Section: Introductionmentioning
confidence: 99%