Deficiência de Glicina N-metiltransferase (deficiência de GNMT) é uma condição muito rara caracterizada por um excesso isolado e persistente de metionina no sangue (hipermetioninemia). As únicas alterações clínicas são um leve aumento do tamanho do fígado (hepatomegalia) e elevação crônica dos níveis de transaminase no sangue, sem que haja doença hepática. A metionina também pode estar aumentada na urina. No entanto, como níveis elevados de metionina no sangue são um fator de risco para o desenvolvimento de sinais e sintomas neurológicos, pessoas com deficiência de GNMT podem ter problemas neurológicos quando os níveis de metionina forem maiores que 800μmol/L. A deficiência de GNMT é causada por mutações no gene GNMT. A herança é autossômica recessiva. O tratamento não é necessário na maioria dos casos.
Introdução
O que você precisa saber de cara
Deficiência de Glicina N-metiltransferase (deficiência de GNMT) é uma condição muito rara caracterizada por um excesso isolado e persistente de metionina no sangue (hipermetioninemia). As únicas alterações clínicas são um leve aumento do tamanho do fígado (hepatomegalia) e elevação crônica dos níveis de transaminase no sangue, sem que haja doença hepática. A metionina também pode estar aumentada na urina. No entanto, como níveis elevados de metionina no sangue são um fator de risco para o desenvolvimento de sinais e sintomas neurológicos, pessoas com deficiência de GNMT podem ter problemas neurológicos quando os níveis de metionina forem maiores que 800μmol/L. A deficiência de GNMT é causada por mutações no gene GNMT. A herança é autossômica recessiva. O tratamento não é necessário na maioria dos casos.
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 4 características clínicas mais associadas, ordenadas por frequência.
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
1 gene identificado com associação a esta condição.
Catalyzes the methylation of glycine by using S-adenosylmethionine (AdoMet) to form N-methylglycine (sarcosine) with the concomitant production of S-adenosylhomocysteine (AdoHcy), a reaction regulated by the binding of 5-methyltetrahydrofolate. Plays an important role in the regulation of methyl group metabolism by regulating the ratio between S-adenosyl-L-methionine and S-adenosyl-L-homocysteine
Cytoplasm
Glycine N-methyltransferase deficiency
The only clinical abnormalities in patients with this deficiency are mild hepatomegaly and chronic elevation of serum transaminases.
Variantes genéticas (ClinVar)
20 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
3 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
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Publicações mais relevantes
ADK deficiency without hypermethioninemia presenting as intractable epilepsy: a rare neurometabolic case and literature review.
ADK deficiency, an extremely rare inherited metabolic disorder affecting methylation, is likely underdiagnosed as a cause of epilepsy. The limited number of reported cases and variability in presentation, particularly the absence of hypermethioninemia, pose diagnostic challenges. We report an 11-year-9-month-old Indonesian boy with refractory seizures, developmental delay, dysmorphic features, hypotonia, and intellectual disability. Despite normal methionine levels, WES revealed a variant in the ADK gene, confirmed by Sanger sequencing; both parents were heterozygous carriers. Management with multiple antiseizure medications and a methionine-restricted diet reduced seizures, though development remained limited. This case report highlights the first genetically confirmed ADK deficiency case from Indonesia. A concise literature review of reported cases worldwide is also provided to contextualize this atypical phenotype and discuss current diagnostic and therapeutic considerations.
Expanded newborn screening for inborn errors of metabolism and genetic variants in Xinjiang, China.
Inborn errors of metabolism (IEMs), with diverse clinical phenotypes, are featured primarily by complex etiology, lack of specificity in clinical manifestations, major damage to the nervous and digestive system, and even death, bringing great pain and economic burden to children and families. Expanded newborn screening for IEMs by tandem mass spectrometry (MS/MS) is effective to realize early diagnosis and presymptomatic treatment, which may be useful for preventing severe permanent sequelae and death. This study was scheduled to determine the disease spectrum, prevalence and gene variants of IEMs in Xinjiang, China. A sum of 107,741 newborns were screened by MS/MS from January 2019 to December 2024. After initial screening, 3947 newborns, who had positive results, needed to be recalled. The number of successful recalls was 3817 and the recall rate was 96.71%. Suspected positive patients were further diagnosed through next-generation sequencing (NGS) and validated by sanger sequencing. Seventy-three patients were diagnosed with IEMs in Xinjiang, resulting in an overall incidence of 1/1,476. The incidence of amino acid, organic acid, and fatty acid metabolic disorders were 1/1995, 1/8978 and 1/15392, respectively. Hyperphenylalaninemia, Hypermethioninemia and Methylmalonic acidemia ranked the top 3 of all detected IEMs. One hundred twenty-seven mutations in eleven IEMs-associated genes were identified in 69 confirmed cases. Several hotspot mutations in the PAH gene were identified. This study observed some unreported mutation sites in MAT1A gene, which enriched the gene database. Therefore, our data clearly elucidated the disease spectrum and genetic variants in Xinjiang, contributing to the treatment and prenatal genetic counseling of these disorders in this region.
Rare Etiology of Isolated Macrocytosis: Adenosine Kinase Deficiency With a Novel Mutation.
Adenosine kinase (ADK) deficiency is an autosomal recessive disorder characterized by psychomotor developmental delay, epilepsy, dysmorphic features, and liver disease. It is a rare inborn error of methionine and adenosine metabolism. The diagnosis is based on clinical findings, laboratory findings, and molecular analysis of the ADK gene. A novel homozygous mutation NM_006721.4 c.515A>C (p.Asn172Thr) in the ADK gene associated with hypermethioninemia due to ADK deficiency was detected by whole-exome sequencing in a 7-year-old girl who had reticulocytosis, hyperbilirubinemia, elevated mean corpuscular volume, and without mental-motor developmental delay. ADK deficiency as a metabolic disease should be considered in the differential diagnosis of patients with isolated macrocytosis, even without neurologic delay.
Hypermethioninemia due to methionine adenosyltransferase I/III deficiency and brain damage.
Methionine adenosyltransferase I/III deficiency used to be considered a relatively benign disease. This study aims to elucidate the clinical characteristics of methionine adenosyltransferase I/III deficiency patients with neurological manifestations. The clinical data, blood amino acids, plasma total homocysteine, gene variants, brain imaging, treatments and outcomes of 15 patients with methionine adenosyltransferase I/III deficiency were retrospectively analyzed. Of these 15 patients, 10 demonstrated neurological abnormalities, with delayed language development, learning difficulties or abnormal brain imaging findings. Eleven patients were identified by newborn screening. Patients with demyelination showed significantly higher blood methionine concentrations at baseline (1102 vs. 396 µmol/L), and their blood methionine remained markedly elevated despite a low-methionine diet. Their plasma total homocysteine was normal to moderate elevated. One patient underwent liver transplantation aged 8 years, which reduced his serum methionine concentration to normal. Compound heterozygous and homozygous MAT1A variants were identified from the patients. Among the 21 variants observed, nine have been reported previously, while 12 were novel. Methionine adenosyltransferase I/III deficiency is not just a benign disease. Severe persistent hypermethioninemia can cause brain injuries, especially in the white matter. Liver transplantation may be a potential treatment option for refractory methionine adenosyltransferase I/III deficiency.
Genetic variation and clinical phenotype analysis of hypermethioninemia caused by MAT1A gene mutation: Case report.
The high clinical heterogeneity of hypermethioninemia caused by MAT1A gene defects has resulted in a paucity of studies examining the association between clinical phenotypes, biochemical characteristics, and gene mutations in this patient group. Furthermore, the indications for therapeutic interventions in patients remain unclear. The objective of this study is to provide a foundation for clinical diagnosis, genetic counseling, and follow-up management of hypermethioninemia caused by MAT1A gene defects. A retrospective analysis of children with hypermethioninemia at Jinan Maternal and Child Health Hospital from January 2016 to December 2023 was performed using tandem mass spectrometry (MS/MS). The screened and diagnosed children were tested for gene mutations using second-generation sequencing technology and confirmed using Sanger sequencing. Newborn MS/MS screening for diseases demonstrated an elevated methionine level, which was outside the reference range. Upon recalling the newborns, the methionine levels remained elevated, necessitating further refinement of genetic testing. Ultimately, genetic testing confirmed hypermethioninemia, which was attributed to a mutation in the MAT1A gene. The intervention for the patients in this study took the following forms: regular follow-up without treatment (n = 3), intake of methionine-free milk powder without any medication (n = 4), intake of methionine-free milk powder with some medication, and eventually liver transplantation (n = 1). A total of 14 mutation types were detected, including 3 compound heterozygous mutation types (c.926G > T, c.37_38delCT, and c.316G > A) that have not been previously reported. One patient had monoheterozygous mutations, including the novel mutation c.550-1G > A. Eight cases were monitored over time, 7 of which demonstrated typical growth and development. One infant with growth retardation was fed a special formula lacking methionine. The patient underwent liver transplantation. Subsequent follow-up examinations showed methionine and homocysteine levels within normal limits and no further neurological manifestations. Compound heterozygous mutations c.874C > T and c.896G > A may result in higher levels of methionine, affecting the central nervous system. For newborns with initial methionine levels of >500 µmol/L, treatment with a low-Met diet is recommended. Liver transplantation may be beneficial for children with severe hypermethioninemia, particularly in preventing central nervous system damage.
Publicações recentes
ADK deficiency without hypermethioninemia presenting as intractable epilepsy: a rare neurometabolic case and literature review.
Rare Etiology of Isolated Macrocytosis: Adenosine Kinase Deficiency With a Novel Mutation.
Genetic variation and clinical phenotype analysis of hypermethioninemia caused by MAT1A gene mutation: Case report.
Hypermethioninemia due to methionine adenosyltransferase I/III deficiency and brain damage.
Tannic acid: A possible therapeutic agent for hypermethioninemia-induced neurochemical changes in young rats.
📚 EuropePMCmostrando 87
ADK deficiency without hypermethioninemia presenting as intractable epilepsy: a rare neurometabolic case and literature review.
NeurogeneticsExpanded newborn screening for inborn errors of metabolism and genetic variants in Xinjiang, China.
Frontiers in geneticsRare Etiology of Isolated Macrocytosis: Adenosine Kinase Deficiency With a Novel Mutation.
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JIMD reportsHypermethioninemia due to methionine adenosyltransferase I/III deficiency and brain damage.
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Langmuir : the ACS journal of surfaces and colloidsTangshen formula improves diabetic nephropathy in STZ-induced diabetes rats fed with hyper-methionine by regulating the methylation status of kidney.
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Children (Basel, Switzerland)Long-term prognosis of 35 patients with methionine adenosyltransferase deficiency based on newborn screening in China.
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Metabolic brain diseaseMethionine Adenosyltransferase I/III Deficiency Detected by Newborn Screening.
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Clinica chimica acta; international journal of clinical chemistryAmyloids Formed by Nonaromatic Amino Acid Methionine and Its Cross with Phenylalanine Significantly Affects Phospholipid Vesicle Membrane: An Insight into Hypermethioninemia Disorder.
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Analytical science advancesAcute hypermethioninemia impairs redox homeostasis and acetylcholinesterase activity in the hippocampus, striatum, and cerebellum of young rats.
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Molecular genetics and metabolismAmeliorative effect of tannic acid on hypermethioninemia-induced oxidative and nitrosative damage in rats: biochemical-based evidences in liver, kidney, brain, and serum.
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The Journal of nutritionMethionine adenosyltransferase I/III deficiency: Long-term follow-up and treatment of 3 adult siblings.
European journal of medical geneticsInterplay of Enzyme Therapy and Dietary Management of Murine Homocystinuria.
NutrientsA cautionary tale of pyridoxine toxicity in cystathionine beta-synthase deficiency detected by two-tier newborn screening highlights the need for clear pyridoxine dosing guidelines.
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Molecular neurobiologyStructural basis of the dominant inheritance of hypermethioninemia associated with the Arg264His mutation in the MAT1A gene.
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JIMD reportsNovel method for l-methionine determination using l-methionine decarboxylase and application of the enzyme for l-homocysteine determination.
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NeurotoxicologyAnalysis of five cases of hypermethioninemia diagnosed by neonatal screening.
Journal of pediatric endocrinology & metabolism : JPEMExpanded Newborn Screening for Inborn Errors of Metabolism by Tandem Mass Spectrometry in Suzhou, China: Disease Spectrum, Prevalence, Genetic Characteristics in a Chinese Population.
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Molecular genetics and metabolism reportsThe neuroprotective role of melatonin in a gestational hypermethioninemia model.
International journal of developmental neuroscience : the official journal of the International Society for Developmental NeuroscienceExcessive Methionine Supplementation Exacerbates the Development of Abdominal Aortic Aneurysm in Rats.
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The FEBS journalWhole exome sequencing revealed mutations in FBXL4, UNC80, and ADK in Thai patients with severe intellectual disabilities.
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BMC medical geneticsNeonatal methionine adenosyltransferase I/III deficiency with abnormal signal intensity in the central tegmental tract.
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ACS chemical neuroscienceHigh levels of methionine and methionine sulfoxide: Impact on adenine nucleotide hydrolysis and redox status in platelets and serum of young rats.
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Therapeutics and clinical risk managementMethionine Administration in Pregnant Rats Causes Memory Deficit in the Offspring and Alters Ultrastructure in Brain Tissue.
Neurotoxicity research[Gene mutations in a newborn infant with hypermethioninemia].
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Molecular and cellular biochemistryChronic administration of methionine and/or methionine sulfoxide alters oxidative stress parameters and ALA-D activity in liver and kidney of young rats.
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Journal of inherited metabolic diseaseAdenosine kinase deficiency with neurodevelopemental delay and recurrent hepatic dysfunction: A case report.
Advances in rare diseasesGlycine N-Methyltransferase Deficiency: A Member of Dysmethylating Liver Disorders?
JIMD reportsThe remarkable S. Harvey Mudd - A reminiscence.
Molecular genetics and metabolismAbnormal Hypermethylation at Imprinting Control Regions in Patients with S-Adenosylhomocysteine Hydrolase (AHCY) Deficiency.
PloS oneAdenosine kinase deficiency: expanding the clinical spectrum and evaluating therapeutic options.
Journal of inherited metabolic diseaseSuccessive MRI Findings of Reversible Cerebral White Matter Lesions in a Patient with Cystathionine β-Synthase Deficiency.
The Tohoku journal of experimental medicineAdult-onset liver disease and hepatocellular carcinoma in S-adenosylhomocysteine hydrolase deficiency.
Molecular genetics and metabolismGestational hypermethioninaemia alters oxidative/nitrative status in skeletal muscle and biomarkers of muscular injury and inflammation in serum of rat offspring.
International journal of experimental pathologyMudd's disease (MAT I/III deficiency): a survey of data for MAT1A homozygotes and compound heterozygotes.
Orphanet journal of rare diseasesLiver transplantation for treatment of severe S-adenosylhomocysteine hydrolase deficiency.
Molecular genetics and metabolismNewborn Screening for Homocystinuria Revealed a High Frequency of MAT I/III Deficiency in Iberian Peninsula.
JIMD reportsMAT2A mutations predispose individuals to thoracic aortic aneurysms.
American journal of human geneticsAssociações
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- ADK deficiency without hypermethioninemia presenting as intractable epilepsy: a rare neurometabolic case and literature review.
- Expanded newborn screening for inborn errors of metabolism and genetic variants in Xinjiang, China.
- Rare Etiology of Isolated Macrocytosis: Adenosine Kinase Deficiency With a Novel Mutation.
- Hypermethioninemia due to methionine adenosyltransferase I/III deficiency and brain damage.
- Genetic variation and clinical phenotype analysis of hypermethioninemia caused by MAT1A gene mutation: Case report.
- Tannic acid: A possible therapeutic agent for hypermethioninemia-induced neurochemical changes in young rats.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:289891(Orphanet)
- OMIM OMIM:606664(OMIM)
- MONDO:0011698(MONDO)
- GARD:10764(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q32146351(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar