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Results 41 - 48 of 48 for arginine deficiency
  1. KCNH2 gene 
    ... syndrome caused by KCNH2 mutations that disrupt conserved arginine residues in the voltage sensor. J Membr Biol. ... kinetics but causes long QT by heterotetrameric trafficking deficiency. Cardiovasc Res. 2005 Aug 15;67(3):467- ...
    https://medlineplus.gov/genetics/gene/kcnh2 - Genetics
  2. Miller syndrome 
    ... Brosnan ME, Brosnan JT. Orotic acid excretion and arginine metabolism. J Nutr. 2007 Jun;137(6 Suppl ... subgroup of postaxial acrofacial dysostosis associated with partial deficiency of DHODH. Hum Mol Genet. 2012 Sep 15; ...
    https://medlineplus.gov/genetics/condition/miller-syndrome - Genetics
  3. DHODH gene 
    ... Brosnan ME, Brosnan JT. Orotic acid excretion and arginine metabolism. J Nutr. 2007 Jun;137(6 Suppl ... subgroup of postaxial acrofacial dysostosis associated with partial deficiency of DHODH. Hum Mol Genet. 2012 Sep 15; ...
    https://medlineplus.gov/genetics/gene/dhodh - Genetics
  4. TEK gene 
    ... The most common mutation replaces the amino acid arginine with the amino acid tryptophan at position 849 ... venous malformations. These abnormal blood vessels show a deficiency of smooth muscle cells while endothelial cells are ...
    https://medlineplus.gov/genetics/gene/tek - Genetics
  5. DNAJC5 gene 
    ... block (amino acid) leucine with the amino acid arginine at position 115 in the CSPα protein (written ... reduction in protein recycling leads to a shortage (deficiency) of functional proteins, which impairs the efficiency of ...
    https://medlineplus.gov/genetics/gene/dnajc5 - Genetics
  6. HSD17B10 gene 
    ... in multiple unrelated individuals, replaces the amino acid arginine with the amino acid cysteine at position 130 ... Wanders RJ. 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency is caused by mutations in the HADH2 gene. ...
    https://medlineplus.gov/genetics/gene/hsd17b10 - Genetics
  7. PRKAG2 gene 
    ... kinase. Specifically, this mutation replaces the amino acid arginine with the amino acid glutamine at position 531 ( ... activated protein kinase (PRKAG2), not by phosphorylase kinase deficiency. Am J Hum Genet. 2005 Jun;76(6): ...
    https://medlineplus.gov/genetics/gene/prkag2 - Genetics
  8. Medications and Supplements (Other Than Steroids) (Parent Project for Muscular Dystrophy Research)  
    Muscular Dystrophy/Treatments and Therapies ... Muscular Dystrophy ... Parent Project for Muscular Dystrophy Research
    https://www.parentprojectmd.org/.../supplements-and-medications - External Health Links
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