Results 1 - 9 of 9 for Lysine
  1. Hyperlysinemia 
    ... by elevated blood levels of the amino acid lysine, a building block of most proteins. Hyperlysinemia is ... shortage (deficiency) of the enzyme that breaks down lysine. Hyperlysinemia typically causes no health problems, and most ...
    https://medlineplus.gov/genetics/condition/hyperlysinemia - Genetics
  2. Lysinuric protein intolerance 
    ... use certain protein building blocks (amino acids), namely lysine, arginine, and ornithine. Because the body cannot effectively ... y+LAT-1), which is involved in transporting lysine, arginine, and ornithine between cells in the body. ...
    https://medlineplus.gov/.../condition/lysinuric-protein-intolerance - Genetics
  3. Glutaric acidemia type I 
    ... enzyme that helps break down the amino acids lysine, hydroxylysine, and tryptophan, which are building blocks of ... enzyme is involved in processing the amino acids lysine, hydroxylysine, and tryptophan.Mutations in the GCDH gene ...
    https://medlineplus.gov/genetics/condition/glutaric-acidemia-type-i - Genetics
  4. Kabuki syndrome 
    ... gene provides instructions for making an enzyme, called lysine-specific methyltransferase 2D, that is found in many organs and tissues of the body. Lysine-specific methyltransferase 2D functions as a histone methyltransferase. ...
    https://medlineplus.gov/genetics/condition/kabuki-syndrome - Genetics
  5. Maternally inherited diabetes and deafness 
    ... gene, called tRNALys, attaches to the amino acid lysine (Lys) and inserts it into proteins being assembled. ...
    https://medlineplus.gov/...aternally-inherited-diabetes-and-deafness - Genetics
  6. Pyridoxine-dependent epilepsy 
    ... breakdown of the protein building block (amino acid) lysine in the brain.When antiquitin is deficient, a ...
    https://medlineplus.gov/.../condition/pyridoxine-dependent-epilepsy - Genetics
  7. X-linked intellectual disability, Siderius type 
    ... and mental retardation, encodes for an Nepsilon-dimethyl lysine demethylase. Hum Mol Genet. 2010 Jan 15;19( ...
    https://medlineplus.gov/...ked-intellectual-disability-siderius-type - Genetics
  8. Sotos syndrome 
    ... SET domain protein 1 (NSD1) methyltransferase in coordinating lysine 36 methylation at histone 3 with RNA polymerase ...
    https://medlineplus.gov/genetics/condition/sotos-syndrome - Genetics
  9. Kuskokwim syndrome 
    ... of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen. Hum Mol Genet. 2013 Jan ...
    https://medlineplus.gov/genetics/condition/kuskokwim-syndrome - Genetics