Glycine N-methyltransferase deficiency: a novel inborn error causing persistent isolated hypermethioninaemia.

PubWeight™: 1.42‹?› | Rank: Top 5%

🔗 View Article (PMID 11596649)

Published in J Inherit Metab Dis on August 01, 2001

Authors

S H Mudd1, R Cerone, M C Schiaffino, A R Fantasia, G Minniti, U Caruso, R Lorini, D Watkins, N Matiaszuk, D S Rosenblatt, B Schwahn, R Rozen, L LeGros, M Kotb, A Capdevila, Z Luka, J D Finkelstein, A Tangerman, S P Stabler, R H Allen, C Wagner

Author Affiliations

1: Laboratory of Molecular Biology, National Institute of Mental Health, Bethesda, Maryland 20892-4034, USA. shm@codon.nih.gov

Articles citing this

Loss of the glycine N-methyltransferase gene leads to steatosis and hepatocellular carcinoma in mice. Hepatology (2008) 2.91

S-adenosylmethionine in liver health, injury, and cancer. Physiol Rev (2012) 1.82

Glycine N-methyltransferase and regulation of S-adenosylmethionine levels. J Biol Chem (2009) 1.55

Glycine N -methyltransferase deficiency: a new patient with a novel mutation. J Inherit Metab Dis (2003) 1.44

A glycine N-methyltransferase knockout mouse model for humans with deficiency of this enzyme. Transgenic Res (2006) 1.33

S-adenosylhomocysteine hydrolase deficiency in a human: a genetic disorder of methionine metabolism. Proc Natl Acad Sci U S A (2004) 1.32

Adenosine kinase deficiency disrupts the methionine cycle and causes hypermethioninemia, encephalopathy, and abnormal liver function. Am J Hum Genet (2011) 1.14

S-Adenosylhomocysteine hydrolase deficiency: a second patient, the younger brother of the index patient, and outcomes during therapy. J Inherit Metab Dis (2005) 1.03

S-adenosylhomocysteine hydrolase deficiency in a 26-year-old man. J Inherit Metab Dis (2006) 1.03

Sustained proliferation in cancer: Mechanisms and novel therapeutic targets. Semin Cancer Biol (2015) 1.01

Fatty liver and fibrosis in glycine N-methyltransferase knockout mice is prevented by nicotinamide. Hepatology (2010) 0.99

Inherited disorders in the conversion of methionine to homocysteine. J Inherit Metab Dis (2009) 0.97

Excess S-adenosylmethionine reroutes phosphatidylethanolamine towards phosphatidylcholine and triglyceride synthesis. Hepatology (2013) 0.94

Impaired liver regeneration in mice lacking glycine N-methyltransferase. Hepatology (2009) 0.94

Adenosine kinase deficiency: expanding the clinical spectrum and evaluating therapeutic options. J Inherit Metab Dis (2015) 0.90

Inhibition of natural killer cells protects the liver against acute injury in the absence of glycine N-methyltransferase. Hepatology (2012) 0.88

Okadaic acid-induced, naringin-sensitive phosphorylation of glycine N-methyltransferase in isolated rat hepatocytes. Biochem J (2003) 0.84

Benzo[a]pyrene effects on glycine N-methyltransferase mRNA expression and enzyme activity in Fundulus heteroclitus embryos. Aquat Toxicol (2010) 0.84

Two patients with hepatic mtDNA depletion syndromes and marked elevations of S-adenosylmethionine and methionine. Mol Genet Metab (2011) 0.84

Acetylation of N-terminal valine of glycine N-methyltransferase affects enzyme inhibition by folate. Biochim Biophys Acta (2008) 0.83

S-adenosylhomocysteine hydrolase deficiency: two siblings with fetal hydrops and fatal outcomes. J Inherit Metab Dis (2010) 0.83

Polymorphisms and disease: hotspots of inactivation in methyltransferases. Trends Biochem Sci (2010) 0.81

Human liver methionine cycle: MAT1A and GNMT gene resequencing, functional genomics, and hepatic genotype-phenotype correlation. Drug Metab Dispos (2012) 0.81

Deficiency of glycine N-methyltransferase aggravates atherosclerosis in apolipoprotein E-null mice. Mol Med (2012) 0.80

GNMT expression increases hepatic folate contents and folate-dependent methionine synthase-mediated homocysteine remethylation. Mol Med (2011) 0.80

Glycine N-methyltransferase expression in the hippocampus and its role in neurogenesis and cognitive performance. Hippocampus (2014) 0.80

Methionine adenosyltransferase I/III deficiency: two Korean compound heterozygous siblings with a novel mutation. J Inherit Metab Dis (2002) 0.79

Metabolic profiling of total homocysteine and related compounds in hyperhomocysteinemia: utility and limitations in diagnosing the cause of puzzling thrombophilia in a family. JIMD Rep (2013) 0.78

Consensus recommendations for the diagnosis, treatment and follow-up of inherited methylation disorders. J Inherit Metab Dis (2016) 0.78

Glycine N-Methyltransferase Deficiency: A Member of Dysmethylating Liver Disorders? JIMD Rep (2016) 0.76

The biochemical and toxicological significance of hypermethionemia: new insights and clinical relevance. Expert Opin Drug Metab Toxicol (2010) 0.75

Quercetin Increases Hepatic Homocysteine Remethylation and Transsulfuration in Rats Fed a Methionine-Enriched Diet. Biomed Res Int (2015) 0.75

Endocrine-disrupting chemicals and fatty liver disease. Nat Rev Endocrinol (2017) 0.75

Articles cited by this

A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase. Nat Genet (1995) 17.27

A second genetic polymorphism in methylenetetrahydrofolate reductase (MTHFR) associated with decreased enzyme activity. Mol Genet Metab (1998) 5.06

Choline and human nutrition. Annu Rev Nutr (1994) 3.09

Labile methyl balances for normal humans on various dietary regimens. Metabolism (1975) 2.53

Competing methyltransferase systems. J Biol Chem (1972) 1.84

Creatine deficiency syndrome caused by guanidinoacetate methyltransferase deficiency: diagnostic tools for a new inborn error of metabolism. J Pediatr (1997) 1.76

Pathways and regulation of homocysteine metabolism in mammals. Semin Thromb Hemost (2000) 1.75

Consensus nomenclature for the mammalian methionine adenosyltransferase genes and gene products. Trends Genet (1997) 1.67

Serum betaine, N,N-dimethylglycine and N-methylglycine levels in patients with cobalamin and folate deficiency and related inborn errors of metabolism. Metabolism (1993) 1.66

Feedback inhibition of methylene-tetrahydrofolate reductase in rat liver by S-adenosylmethionine. Biochim Biophys Acta (1967) 1.53

Creatine deficiency in the brain: a new, treatable inborn error of metabolism. Pediatr Res (1994) 1.47

Disruption of the murine gene encoding phosphatidylethanolamine N-methyltransferase. Proc Natl Acad Sci U S A (1997) 1.44

Pathogenesis of methionine-induced toxicity. Metabolism (1970) 1.44

Simultaneous measurement of endogenous and deuterium-labeled tracer variants of choline and acetylcholine in subpicomole quantities by gas chromatography-mass spectrometry. Anal Biochem (1973) 1.39

Biochemical and evolutionary significance of phospholipid methylation. J Biol Chem (1998) 1.37

Purification and characterization of glycine N-methyltransferase. J Biol Chem (1973) 1.35

Labile methyl group balances in the human: the role of sarcosine. Metabolism (1980) 1.34

Guanidinoacetate methyltransferase deficiency: the first inborn error of creatine metabolism in man. Am J Hum Genet (1996) 1.31

Purification and properties of glycine N-methyltransferase from rat liver. J Biol Chem (1982) 1.29

Tissue distribution of glycine N-methyltransferase, a major folate-binding protein of liver. Proc Natl Acad Sci U S A (1994) 1.27

Allosteric inhibition of methylenetetrahydrofolate reductase by adenosylmethionine. Effects of adenosylmethionine and NADPH on the equilibrium between active and inactive forms of the enzyme and on the kinetics of approach to equilibrium. J Biol Chem (1987) 1.24

On the mechanism of induction of hepatic adenosine triphosphate deficiency by ethionine. J Biol Chem (1966) 1.19

Plasma amino-acid patterns in liver disease. Gut (1982) 1.19

Measurement of plasma S-adenosylmethionine and S-adenosylhomocysteine as their fluorescent isoindoles. Anal Biochem (1998) 1.17

Plasma choline: its turnover and exchange with brain choline. J Neurochem (1975) 1.16

Methionine adenosyltransferase: structure and function. Pharmacol Ther (1993) 1.16

Methionine adenosyltransferase I/III deficiency: novel mutations and clinical variations. Am J Hum Genet (2000) 1.15

Methylenetetrahydrofolate reductase in cultured human cells. I. Growtha and metabolic studies. Pediatr Res (1977) 1.13

Specific loss of the high-molecular-weight form of S-adenosyl-L-methionine synthetase in human liver cirrhosis. Hepatology (1988) 1.13

Excessive excretion of beta-alanine and of 3-hydroxypropionic, R- and S-3-aminoisobutyric, R- and S-3-hydroxyisobutyric and S-2-(hydroxymethyl)butyric acids probably due to a defect in the metabolism of the corresponding malonic semialdehydes. J Inherit Metab Dis (1985) 1.11

Isolated persistent hypermethioninemia. Am J Hum Genet (1995) 1.11

Transsulfuration in an adult with hepatic methionine adenosyltransferase deficiency. J Clin Invest (1988) 1.11

Cloning, expression, and functional characterization of the beta regulatory subunit of human methionine adenosyltransferase (MAT II). J Biol Chem (2000) 1.11

Mental retardation and behavioral problems as presenting signs of a creatine synthesis defect. Ann Neurol (2000) 1.11

Hypermethioninemia associated with methionine adenosyltransferase deficiency: clinical, morphologic, and biochemical observations on four patients. J Pediatr (1981) 1.10

Transamination of methionine in humans. Clin Sci (Lond) (1989) 1.10

The role of transamination in methionine oxidation in the rat. J Nutr (1978) 0.98

[Still another cause of hypermethioninemia in children: S-adenosylmethionine synthetase deficiency]. Arch Fr Pediatr (1977) 0.95

Hepatic methionine adenosyltransferase deficiency in a 31-year-old man. Am J Hum Genet (1987) 0.93

Purification and properties of pancreatic glycine N-methyltransferase. J Biol Chem (1992) 0.89

Identification of four novel mutations in severe methylenetetrahydrofolate reductase deficiency. Eur J Hum Genet (1998) 0.88

Folate deficiency inhibits pancreatic amylase secretion in rats. Am J Clin Nutr (1995) 0.87

Effect of methionine loading on 5-methyltetrahydrofolate, S-adenosylmethionine and S-adenosylhomocysteine in plasma of healthy humans. Clin Sci (Lond) (1996) 0.87

Characterization of six novel mutations in the methylenetetrahydrofolate reductase (MTHFR) gene in patients with homocystinuria. Hum Mutat (2000) 0.86

Methionine transamination in patients with homocystinuria due to cystathionine beta-synthase deficiency. Metabolism (2000) 0.85

Inhibition of glycine N-methyltransferase by 5-methyltetrahydrofolate pentaglutamate. J Biol Chem (1999) 0.85

Normal brain myelination in a patient homozygous for a mutation that encodes a severely truncated methionine adenosyltransferase I/III. Am J Med Genet (1998) 0.84

Induction of rat liver glycine methyltransferase by high methionine diet. Biochem Biophys Res Commun (1982) 0.84

Genomic structure, expression, and chromosomal localization of the human glycine N-methyltransferase gene. Genomics (2000) 0.84

Guanidinoacetate methyltransferase deficiency: new clinical features. Pediatr Neurol (1997) 0.82

Modulation of tRNA methyltransferase activity by competing enzyme systems. Adv Enzyme Regul (1974) 0.82

Free amino acids in plasma and skeletal muscle of patients with liver cirrhosis. Hepatology (1988) 0.80

Isolated hypermethioninemia: measurements of S-adenosylmethionine and choline. Metabolism (2000) 0.80

Evidence for S-adenosylmethionine independent catabolism of methionine in the rat. J Nutr (1976) 0.77

Sulphur amino acid pattern in chronic liver disease. Ital J Gastroenterol (1994) 0.77

Plasma and serum total homocysteine concentrations in paediatric patients, evaluated by high-performance liquid chromatography with fluorescence. Clin Chem Lab Med (2000) 0.75

3-Methylglutaconic aciduria and hypermethioninaemia in a child with clinical and neuroradiological findings of Leigh disease. J Inherit Metab Dis (1999) 0.75

Articles by these authors

Mutations in a member of the ADAMTS gene family cause thrombotic thrombocytopenic purpura. Nature (2001) 6.95

Mutated methylenetetrahydrofolate reductase as a risk factor for spina bifida. Lancet (1995) 5.58

A second genetic polymorphism in methylenetetrahydrofolate reductase (MTHFR) associated with decreased enzyme activity. Mol Genet Metab (1998) 5.06

Technical advance: simultaneous analysis of metabolites in potato tuber by gas chromatography-mass spectrometry. Plant J (2000) 4.64

Relation between folate status, a common mutation in methylenetetrahydrofolate reductase, and plasma homocysteine concentrations. Circulation (1996) 4.62

The natural history of homocystinuria due to cystathionine beta-synthase deficiency. Am J Hum Genet (1985) 4.60

Neuropsychiatric disorders caused by cobalamin deficiency in the absence of anemia or macrocytosis. N Engl J Med (1988) 4.22

A rapid procedure for extracting genomic DNA from leukocytes. Nucleic Acids Res (1991) 3.89

Carbonated soft drink consumption and bone mineral density in adolescence: the Northern Ireland Young Hearts project. J Bone Miner Res (2003) 3.84

Adverse events and potentially preventable deaths in Dutch hospitals: results of a retrospective patient record review study. Qual Saf Health Care (2009) 3.38

Methylenetetrahydrofolate reductase polymorphism, dietary interactions, and risk of colorectal cancer. Cancer Res (1997) 3.36

Clinical spectrum and diagnosis of cobalamin deficiency. Blood (1990) 3.29

Transsulfuration in mammals. Microassays and tissue distributions of three enzymes of the pathway. J Biol Chem (1965) 3.21

High prevalence of cobalamin deficiency in elderly outpatients. J Am Geriatr Soc (1992) 3.12

Prevalence of cobalamin deficiency in the Framingham elderly population. Am J Clin Nutr (1994) 3.08

Sensitivity of serum methylmalonic acid and total homocysteine determinations for diagnosing cobalamin and folate deficiencies. Am J Med (1994) 2.98

Mice deficient in methylenetetrahydrofolate reductase exhibit hyperhomocysteinemia and decreased methylation capacity, with neuropathology and aortic lipid deposition. Hum Mol Genet (2001) 2.93

Microarray-based identification of a novel Streptococcus pneumoniae regulon controlled by an autoinduced peptide. J Bacteriol (2000) 2.85

Urban traffic and pollutant exposure related to respiratory outcomes and atopy in a large sample of children. Eur Respir J (2003) 2.79

Intravenous immunoglobulin therapy for streptococcal toxic shock syndrome--a comparative observational study. The Canadian Streptococcal Study Group. Clin Infect Dis (1999) 2.69

Molecular genetic analysis in mild hyperhomocysteinemia: a common mutation in the methylenetetrahydrofolate reductase gene is a genetic risk factor for cardiovascular disease. Am J Hum Genet (1996) 2.68

Domain organization and molecular characterization of 13 two-component systems identified by genome sequencing of Streptococcus pneumoniae. Gene (1999) 2.68

Human methylenetetrahydrofolate reductase: isolation of cDNA, mapping and mutation identification. Nat Genet (1994) 2.50

Isolation and characterization of the transferrin receptor from human placenta. J Biol Chem (1979) 2.48

Are Himalayan Sherpas better protected against brain damage associated with extreme altitude climbs? Clin Sci (Lond) (1996) 2.48

Phytochrome signalling is mediated through nucleoside diphosphate kinase 2. Nature (1999) 2.46

The structure and properties of methylenetetrahydrofolate reductase from Escherichia coli suggest how folate ameliorates human hyperhomocysteinemia. Nat Struct Biol (1999) 2.43

Enzymatic conjugation of epoxides with glutathione. J Biol Chem (1973) 2.34

Genetic relatedness and superantigen expression in group A streptococcus serotype M1 isolates from patients with severe and nonsevere invasive diseases. Infect Immun (2000) 2.34

Viremia control following antiretroviral treatment and therapeutic immunization during primary SIV251 infection of macaques. Nat Med (2000) 2.33

A polymorphism (80G->A) in the reduced folate carrier gene and its associations with folate status and homocysteinemia. Mol Genet Metab (2000) 2.33

Effective treatment of cobalamin deficiency with oral cobalamin. Blood (1998) 2.29

Type B hepatitis after needle-stick exposure: prevention with hepatitis B immune globulin. Final report of the Veterans Administration Cooperative Study. Ann Intern Med (1978) 2.29

Is the frequency of self-monitoring of blood glucose related to long-term metabolic control? Multicenter analysis including 24,500 patients from 191 centers in Germany and Austria. Exp Clin Endocrinol Diabetes (2006) 2.28

Inverse relation between disease severity and expression of the streptococcal cysteine protease, SpeB, among clonal M1T1 isolates recovered from invasive group A streptococcal infection cases. Infect Immun (2000) 2.24

Elevated methylmalonic acid and total homocysteine levels show high prevalence of vitamin B12 deficiency after gastric surgery. Ann Intern Med (1996) 2.19

Socio-economic disparities in preterm birth: causal pathways and mechanisms. Paediatr Perinat Epidemiol (2001) 2.19

Characterization and cloning of the E11 antigen, a marker expressed by rat osteoblasts and osteocytes. Bone (1996) 2.11

Cause and composition of foetor hepaticus. Lancet (1994) 2.09

The 1298A-->C polymorphism in methylenetetrahydrofolate reductase (MTHFR): in vitro expression and association with homocysteine. Atherosclerosis (2001) 2.06

Methylenetetrahydrofolate reductase polymorphism, plasma folate, homocysteine, and risk of myocardial infarction in US physicians. Circulation (1996) 2.06

Total homocysteine in plasma or serum: methods and clinical applications. Clin Chem (1993) 2.01

Can penicillins and other beta-lactam antibiotics be used to treat tuberculosis? Antimicrob Agents Chemother (1995) 2.01

The genetic abnormality in the beta cell determines the response to an oral glucose load. Diabetologia (2002) 1.99

A simple view of the brain through a frequency-specific functional connectivity measure. Neuroimage (2007) 1.99

Metabolic evidence that deficiencies of vitamin B-12 (cobalamin), folate, and vitamin B-6 occur commonly in elderly people. Am J Clin Nutr (1993) 1.98

Cerebral lateralization of language in normal left-handed people studied by functional MRI. Neurology (1999) 1.96

Receptor-mediated folate accumulation is regulated by the cellular folate content. Proc Natl Acad Sci U S A (1986) 1.95

Infliximab induces potent anti-inflammatory and local immunomodulatory activity but no systemic immune suppression in patients with Crohn's disease. Aliment Pharmacol Ther (2001) 1.94

Cloning and mapping of a cDNA for methionine synthase reductase, a flavoprotein defective in patients with homocystinuria. Proc Natl Acad Sci U S A (1998) 1.93

Effects of common polymorphisms on the properties of recombinant human methylenetetrahydrofolate reductase. Proc Natl Acad Sci U S A (2001) 1.91

An anonymous DNA probe (LAMP 92) detects a Pvu II polymorphism on human chromosome 9 [D9S29]. Nucleic Acids Res (1988) 1.91

The effect of a subnormal vitamin B-6 status on homocysteine metabolism. J Clin Invest (1996) 1.91

Quantitative culture of Mycobacterium tuberculosis from clinical sputum specimens and dilution endpoint of its detection by the Amplicor PCR assay. J Clin Microbiol (1995) 1.89

Selective depletion of V beta-bearing T cells in patients with severe invasive group A streptococcal infections and streptococcal toxic shock syndrome. Ontario Streptococcal Study Project. J Infect Dis (1995) 1.88

Diagnosis of cobalamin deficiency I: usefulness of serum methylmalonic acid and total homocysteine concentrations. Am J Hematol (1990) 1.87

Metabolic abnormalities in cobalamin (vitamin B12) and folate deficiency. FASEB J (1993) 1.85

Synthesis, structure, and second-order nonlinear optical properties of copper(II) and palladium(II) acentric complexes with N-salicylidene-N'-aroylhydrazine tridentate ligands. Inorg Chem (2002) 1.84

Varying titers of neutralizing antibodies to streptococcal superantigens in different preparations of normal polyspecific immunoglobulin G: implications for therapeutic efficacy. Clin Infect Dis (1998) 1.83

Failure to deactivate in the prefrontal cortex in schizophrenia: dysfunction of the default mode network? Psychol Med (2008) 1.83

Folate-responsive homocystinuria and "schizophrenia". A defect in methylation due to deficient 5,10-methylenetetrahydrofolate reductase activity. N Engl J Med (1975) 1.83

Cystinuria subtype and the risk of nephrolithiasis. Kidney Int (1998) 1.81

Maternal hyperhomocysteinemia: a risk factor for neural-tube defects? Metabolism (1994) 1.81

Elevation of total homocysteine in the serum of patients with cobalamin or folate deficiency detected by capillary gas chromatography-mass spectrometry. J Clin Invest (1988) 1.80

Maternal vitamin use, genetic variation of infant methylenetetrahydrofolate reductase, and risk for spina bifida. Am J Epidemiol (1998) 1.80

Elevation of serum cystathionine levels in patients with cobalamin and folate deficiency. Blood (1993) 1.80

Effects of vitamin B12, folate, and vitamin B6 supplements in elderly people with normal serum vitamin concentrations. Lancet (1995) 1.79

Homocystinuria associated with decreased methylenetetrahydrofolate reductase activity. Biochem Biophys Res Commun (1972) 1.79

Gene deletion and restriction fragment length polymorphisms at the human ornithine transcarbamylase locus. Nature (1985) 1.77

A common variant in methionine synthase reductase combined with low cobalamin (vitamin B12) increases risk for spina bifida. Mol Genet Metab (1999) 1.75

Methionine metabolism in mammals. Distribution of homocysteine between competing pathways. J Biol Chem (1984) 1.75

Human methionine synthase: cDNA cloning and identification of mutations in patients of the cblG complementation group of folate/cobalamin disorders. Hum Mol Genet (1996) 1.74

Diagnosis of cobalamin deficiency: II. Relative sensitivities of serum cobalamin, methylmalonic acid, and total homocysteine concentrations. Am J Hematol (1990) 1.71

Superantigenicity of streptococcal M protein. J Exp Med (1990) 1.70

A telemedicine support for diabetes management: the T-IDDM project. Comput Methods Programs Biomed (2002) 1.69

5,10 Methylenetetrahydrofolate reductase genetic polymorphism as a risk factor for neural tube defects. Am J Med Genet (1996) 1.68

Consensus nomenclature for the mammalian methionine adenosyltransferase genes and gene products. Trends Genet (1997) 1.67

Serum betaine, N,N-dimethylglycine and N-methylglycine levels in patients with cobalamin and folate deficiency and related inborn errors of metabolism. Metabolism (1993) 1.66

DNA methylation in folate deficiency: use of CpG methylase. Biochem Biophys Res Commun (1993) 1.65

Effects of combined inspiratory muscle and cycle ergometer training on exercise performance in patients with COPD. Eur Respir J (1994) 1.64

Activation of cystathionine synthase by adenosylmethionine and adenosylethionine. Biochem Biophys Res Commun (1975) 1.64

Elevation of 2-methylcitric acid I and II levels in serum, urine, and cerebrospinal fluid of patients with cobalamin deficiency. Metabolism (1993) 1.62

When does human brain development end? Evidence of corpus callosum growth up to adulthood. Ann Neurol (1993) 1.62

Cobalamin analogues are present in human plasma and can mask cobalamin deficiency because current radioisotope dilution assays are not specific for true cobalamin. N Engl J Med (1978) 1.62

Molecular cloning of L-methylmalonyl-CoA mutase: gene transfer and analysis of mut cell lines. Proc Natl Acad Sci U S A (1988) 1.61

Efficacy of hepatitis B immune serum globulin after accidental exposure. Preliminary report of the Veterans Administration Cooperative Study. Lancet (1975) 1.59