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Results 21 - 30 of 48 for arginine deficiency
  1. MT-ND4 gene 
    ... as C11777A or Arg340Ser, replaces the amino acid arginine with the amino acid serine at ... mitochondrially encoded NADH ...
    https://medlineplus.gov/genetics/gene/mt-nd4 - Genetics
  2. HMGCL gene 
    ... CoA lyase deficiency (also called HMG-CoA lyase deficiency). Most of these mutations change single amino acids in the HMG-CoA lyase enzyme. For example, the most common mutation in the Saudi Arabian population replaces the amino acid arginine with the amino acid glutamine at position 41 ( ...
    https://medlineplus.gov/genetics/gene/hmgcl - Genetics
  3. ASL gene 
    ... start the reaction in which the amino acid arginine, a building block of proteins, is produced from ... nitrogen collected earlier in the urea cycle. The arginine is later broken down into urea, which is ...
    https://medlineplus.gov/genetics/gene/asl - Genetics
  4. HSD17B3 gene 
    ... mutations that cause 17-beta hydroxysteroid dehydrogenase 3 deficiency have ... (amino acid) arginine with the amino acid glutamine at protein position ...
    https://medlineplus.gov/genetics/gene/hsd17b3 - Genetics
  5. GAMT gene 
    The GAMT gene provides instructions for making the enzyme guanidinoacetate methyltransferase, which is active (expressed) mainly in the liver. This enzyme ...
    https://medlineplus.gov/genetics/gene/gamt - Genetics
  6. SLC25A15 gene 
    ... common mutation found in people with ornithine translocase deficiency ... the amino acid arginine with a premature stop signal in the instructions ...
    https://medlineplus.gov/genetics/gene/slc25a15 - Genetics
  7. Hemophilia A 
    ... hemophilia may be treated with desmopressin (desamino-8-arginine vasopressin or DDAVP). This medicine helps the body ... Elsevier; 2023:chap 134. Ragni MV. Coagulation factor deficiencies. In: Goldman L, Cooney KA, eds. Goldman-Cecil ...
    https://medlineplus.gov/ency/article/000538.htm - Medical Encyclopedia
  8. Gyrate atrophy of the choroid and retina 
    ... RC, Valle D, Reed GF. Use of an arginine-restricted diet to slow progression of visual loss ...
    https://medlineplus.gov/.../gyrate-atrophy-of-the-choroid-and-retina - Genetics
  9. Hyperlysinemia 
    ... D. Biomarkers identified in inborn errors for lysine, arginine, and ornithine. J Nutr. 2007 Jun;137(6 ...
    https://medlineplus.gov/genetics/condition/hyperlysinemia - Genetics
  10. PPT1 gene 
    ... R151X, replaces the protein building block (amino acid) arginine with a premature stop signal in the instructions ... people of Finnish descent; this genetic change replaces arginine with the amino acid tryptophan at position 122 ...
    https://medlineplus.gov/genetics/gene/ppt1 - Genetics
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