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289 Possible Causes for tRNA,, valine

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  • Valinemia

    […] ligase Deficiency of leucine-transfer ribonucleic acid ligase (disorder) Deficiency of leucyl-tRNA synthetase Deficiency of valine-tRNA ligase Deficiency of valine-transfer[averbis.com] IDIOPATHIC hypervalinemia is an inborn error of valine metabolism which we found in 1963.[doi.org] The SEPSECS gene is also involved in tRNA processing.[mendelian.co]

  • MELAS Syndrome

    He had a mitochondrial transfer RNA (tRNA) mutation (m.1616A G) of the (tRNA-Val) gene, and it was not found in MELAS syndrome ever before.[ncbi.nlm.nih.gov] The mutation causes a change from alanine to valine in the most conserved region of the ND6 subunit.[ncbi.nlm.nih.gov] MELAS associated with a mutation in the valine transfer RNA gene of mitochondrial DNA.[ncbi.nlm.nih.gov]

  • Chronic Progressive External Ophthalmoplegia

    Both mutations are also present in the general population (frequency tRNA(Leu(CUN)) mutation 0.16, tRNA(Thr) mutation 0.015).[ncbi.nlm.nih.gov] Valine is one of these essential amino acids.[molvis.org] KEYWORDS: Mitochondrial tRNA; mutation; pathogenic[ncbi.nlm.nih.gov]

  • Atypical HSD10 Disease

    Background Function of this protein: Functions in mitochondrial tRNA maturation.[speedbiosystems.com] Disease H00925 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency Brite KEGG Orthology (KO) [BR: hsa00001 ] 09100 Metabolism 09105 Amino acid metabolism 00280 Valine[genome.jp] Novel patient missense mutations in the HSD17B10 gene affect dehydrogenase and mitochondrial tRNA modification functions of the encoded protein.[ora.ox.ac.uk]

  • Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome

    A heteroplasmic G to A transition at nucleotide 4332 in the tRNA glutamine gene was identified in the patient’s muscle mitochondrial DNA.[neurology.org] MTTT 590090 7499 mitochondrially encoded tRNA tryptophan MT-TW MTTW 590095 7501 mitochondrially encoded tRNA tyrosine MT-TY MTTY 590100 7502 mitochondrially encoded tRNA valine[ukgtn.nhs.uk] tRNA Leu (UUR) - ( 26 , 150 , 162 ) Mitochondrial Myopathy, CPEO MTTI CPEO/MS G4298A tRNA Ile - ( 100 ) Mitochondrial Myopathy, CPEO MTTI CPEO G4308A tRNA Ile - ( 2 , 3 )[mitomap.org]

  • Propionic Acidemia

    […] mutationsMERRF: Myoclonic epilepsy with ragged red fibersProgressive myoclonic epilepsyAtaxia, myopathy deafness, short statureMtDNA A8344G tRNA mutationNARP: Neurogenic[vdocuments.site] Barton Childs discovered that his symptoms worsened when given the amino acids leucine, isoleucine, valine, methionine, and threonine.[en.wikipedia.org] […] episodes in the first and second decade of life often associated with migraine headache, blood lactate Deafness, myopathy, diabetes mellitus mtDNA mutations at 3243, 3271 tRNA[vdocuments.mx]

  • Methylmalonic Acidemia

    Budde, B.S. et al. tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia . Nat. Genet. 40 , 1113–1118 (2008). 9. Abecasis, G.R. & Wigginton, J.E.[doi.org] PURPOSE: Medical foods for methylmalonic acidemias (MMAs) and propionic acidemias contain minimal valine, isoleucine, methionine, and threonine but have been formulated with[ncbi.nlm.nih.gov] The combination of age at diagnosis, a history of seizures, and the leucine-to-valine dietary intake ratio best predicted head circumference Z-score based on multiple regression[ncbi.nlm.nih.gov]

  • Mitochondrial Disease

    Absence from control databases, hierarchical mt-tRNA mutation segregation within tissues, and occurrence at conserved sequence positions, further confirm this novel mt-tRNA[ncbi.nlm.nih.gov] […] mitochondrial genomic analysis, two had rare homoplasmic DNA sequence variants of likely pathogenicity: mtDNA 3397A G and 4295A G. mtDNA 3397A G, which replaces methionine with valine[journals.plos.org] Definitively proving the pathogenicity of any given mt-tRNA mutation requires combined molecular, genetic and functional studies.[ncbi.nlm.nih.gov]

  • 2-Methylbutyryl-CoA Dehydrogenase Deficiency

    […] of ADP deaminase • Deficiency of alanine aminotransferase • Deficiency of alanine dehydrogenase • Deficiency of alanine-oxo-acid aminotransferase • Deficiency of alanine-tRNA[coding-pro.com] […] α-ketoglutarate Histidine Carnosinemia · Histidinemia · Urocanic aciduria Proline Hyperprolinemia · Prolidase deficiency Glutamate / glutamine SSADHD G propionyl-CoA succinyl-CoA Valine[wiki30.com] […] acyl-CoA dehydrogenase deficiency: identification of a new enzyme defect, resolution of its molecular basis, and evidence for distinct acyl-CoA dehydrogenases in isoleucine and valine[ghr.nlm.nih.gov]

  • Bacillus Stearothermophilus

    Abstract The glutamyl-tRNA synthetase (GluRS) of Bacillus subtilis 168T aminoacylates with glutamate its homologous tRNA(Glu) and tRNA(Gln) in vivo and Escherichia coli tRNA[ncbi.nlm.nih.gov] The conserved arginine residue that occupies the third position from the C-terminus was also replaced with valine without significant loss of activity, but the valine mutant[ncbi.nlm.nih.gov] Abstract The Class I aminoacyl-tRNA synthetases are characterized by two signature sequence motifs, "HIGH" and "KMSKS."[ncbi.nlm.nih.gov]

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