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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[] IDIOPATHIC hypervalinemia is an inborn error of valine metabolism which we found in 1963.[] The SEPSECS gene is also involved in tRNA processing.[]

  • 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.[] The mutation causes a change from alanine to valine in the most conserved region of the ND6 subunit.[] MELAS associated with a mutation in the valine transfer RNA gene of mitochondrial DNA.[]

  • 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).[] Valine is one of these essential amino acids.[] KEYWORDS: Mitochondrial tRNA; mutation; pathogenic[]

  • Atypical HSD10 Disease

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

  • 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.[] 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[] 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 )[]

  • Propionic Acidemia

    […] mutationsMERRF: Myoclonic epilepsy with ragged red fibersProgressive myoclonic epilepsyAtaxia, myopathy deafness, short statureMtDNA A8344G tRNA mutationNARP: Neurogenic[] Barton Childs discovered that his symptoms worsened when given the amino acids leucine, isoleucine, valine, methionine, and threonine.[] […] 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[]

  • 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.[] PURPOSE: Medical foods for methylmalonic acidemias (MMAs) and propionic acidemias contain minimal valine, isoleucine, methionine, and threonine but have been formulated with[] 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[]

  • 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[] […] 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[] Definitively proving the pathogenicity of any given mt-tRNA mutation requires combined molecular, genetic and functional studies.[]

  • 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[] […] α-ketoglutarate Histidine Carnosinemia · Histidinemia · Urocanic aciduria Proline Hyperprolinemia · Prolidase deficiency Glutamate / glutamine SSADHD G propionyl-CoA succinyl-CoA Valine[] […] 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[]

  • 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[] 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[] Abstract The Class I aminoacyl-tRNA synthetases are characterized by two signature sequence motifs, "HIGH" and "KMSKS."[]

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