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Disease on EC 2.1.2.9 - methionyl-tRNA formyltransferase

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DISEASE
TITLE OF PUBLICATION
LINK TO PUBMED
Acidosis, Lactic
Improved lactate control with dichloroacetate in a case with severe neonatal lactic acidosis due to MTFMT mitochondrial translation disorder.
Ataxia
Identification and functional characterization of a novel MTFMT mutation associated with selective vulnerability of the visual pathway and a mild neurological phenotype.
Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening.
Brain Diseases
Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening.
Cardiomyopathies
An N-terminal formyl methionine on COX 1 is required for the assembly of cytochrome c oxidase.
Identification and functional characterization of a novel MTFMT mutation associated with selective vulnerability of the visual pathway and a mild neurological phenotype.
Demyelinating Diseases
Methionyl-tRNA Formyltransferase (MTFMT) Deficiency Mimicking Acquired Demyelinating Disease.
Infections
MTFMT deficiency correlates with reduced mitochondrial integrity and enhanced host susceptibility to intracellular infection.
Intellectual Disability
Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening.
Kidney Failure, Chronic
Challenges managing end-stage renal disease and kidney transplantation in a child with MTFMT mutation and moyamoya disease.
Leigh Disease
An N-terminal formyl methionine on COX 1 is required for the assembly of cytochrome c oxidase.
Clinical and functional characterisation of the combined respiratory chain defect in two sisters due to autosomal recessive mutations in MTFMT.
Erratum: Leigh syndrome caused by mutations in MTFMT is associated with a better prognosis.
Identification and functional characterization of a novel MTFMT mutation associated with selective vulnerability of the visual pathway and a mild neurological phenotype.
Leigh syndrome caused by mutations in MTFMT is associated with a better prognosis.
Leigh syndrome followed by parkinsonism in an adult with homozygous c.626C>T mutation in MTFMT.
Methionyl-tRNA Formyltransferase (MTFMT) Deficiency Mimicking Acquired Demyelinating Disease.
Mitochondrial methionyl N-formylation affects steady-state levels of oxidative phosphorylation complexes and their organization into supercomplexes.
Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation.
Leukoencephalopathies
Identification and functional characterization of a novel MTFMT mutation associated with selective vulnerability of the visual pathway and a mild neurological phenotype.
Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening.
methionyl-trna formyltransferase deficiency
Improved lactate control with dichloroacetate in a case with severe neonatal lactic acidosis due to MTFMT mitochondrial translation disorder.
MTFMT deficiency correlates with reduced mitochondrial integrity and enhanced host susceptibility to intracellular infection.
Microcephaly
Identification and functional characterization of a novel MTFMT mutation associated with selective vulnerability of the visual pathway and a mild neurological phenotype.
Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening.
Mitochondrial Diseases
Clinical and functional characterisation of the combined respiratory chain defect in two sisters due to autosomal recessive mutations in MTFMT.
Methionyl-tRNA Formyltransferase (MTFMT) Deficiency Mimicking Acquired Demyelinating Disease.
Whole exome sequencing of suspected mitochondrial patients in clinical practice.
Moyamoya Disease
Challenges managing end-stage renal disease and kidney transplantation in a child with MTFMT mutation and moyamoya disease.
Muscle Hypotonia
Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening.
Parkinsonian Disorders
Leigh syndrome followed by parkinsonism in an adult with homozygous c.626C>T mutation in MTFMT.
Vision Disorders
Identification and functional characterization of a novel MTFMT mutation associated with selective vulnerability of the visual pathway and a mild neurological phenotype.