Novel MTR compound-heterozygous mutations in a Chinese girl with HHcy due to methionine synthase deficiency, cblG: a case report

[1] Watkins D(1988)Genetic heterogeneity among patients with methylcobalamin deficiency. Definition of two complementation groups, cblE and cblG J Clin Invest 81 1690-1694

[2] Rosenblatt DS(2002)Hyperhomocysteinemia due to methionine synthase deficiency, cblG: structure of the MTR gene, genotype diversity, and recognition of a common mutation, P1173L Am J Hum Genet 71 143-153

[3] Watkins D(2001)Cobalamin-dependent methyltransferases Acc Chem Res 34 681-689

[4] Ru M(1998)Demyelination and inborn errors of the single carbon transfer pathway Eur J Pediatr 157 S118-S121

[5] Hwang HY(2011)Isolated remethylation disorders: do our treatments benefit patients J Inherit Metab Dis 34 137-145

[6] Kim CD(1995)Seizures induced by homocysteine in rats during ontogenesis Epilepsia 36 750-756

[7] Murray A(1997)Convulsant action of D, L-homocysteic acid and its stereoisomers in immature rats Epilepsia 38 767-776

[8] Philip NS(2008)Neurodegeneration and chronic renal failure in methylmalonic aciduria–a pathophysiological approach J Inherit Metab Dis 31 35-43

[9] Matthews RG(2014)Methylmalonic acidemia: a megamitochondrial disorder affecting the kidney Pediatr Nephrol 29 2139-2146

[10] Surtees R(2017)Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency J Inherit Metab Dis 40 21-48

[1] Watkins D(1988)Genetic heterogeneity among patients with methylcobalamin deficiency. Definition of two complementation groups, cblE and cblG J Clin Invest 81 1690-1694

[2] Rosenblatt DS(2002)Hyperhomocysteinemia due to methionine synthase deficiency, cblG: structure of the MTR gene, genotype diversity, and recognition of a common mutation, P1173L Am J Hum Genet 71 143-153

[3] Watkins D(2001)Cobalamin-dependent methyltransferases Acc Chem Res 34 681-689

[4] Ru M(1998)Demyelination and inborn errors of the single carbon transfer pathway Eur J Pediatr 157 S118-S121

[5] Hwang HY(2011)Isolated remethylation disorders: do our treatments benefit patients J Inherit Metab Dis 34 137-145

[6] Kim CD(1995)Seizures induced by homocysteine in rats during ontogenesis Epilepsia 36 750-756

[7] Murray A(1997)Convulsant action of D, L-homocysteic acid and its stereoisomers in immature rats Epilepsia 38 767-776

[8] Philip NS(2008)Neurodegeneration and chronic renal failure in methylmalonic aciduria–a pathophysiological approach J Inherit Metab Dis 31 35-43

[9] Matthews RG(2014)Methylmalonic acidemia: a megamitochondrial disorder affecting the kidney Pediatr Nephrol 29 2139-2146

[10] Surtees R(2017)Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency J Inherit Metab Dis 40 21-48