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Results 1 - 10 of 353 for GLYCINE OR ISOLEUCINE OR PHENYLALANINE OR THREONINE OR VALINE OR TYROSINE OR LYSINE OR SERINE OR glutamine ACID OR ARGININE OR ALANINE OR LEUCINE OR ASPARTIC ACID OR TAURINE OR PROLINE OR METHIONINE OR TRYPTOPHAN OR CYSTEINE OR HISTIDINE
  1. Phenylketonuria (National Library of Medicine)  
    ... you have it, your body can't process phenylalanine (Phe). Phe is an amino acid, a building block of proteins. It is in almost all foods. If your Phe level gets too ...
    https://medlineplus.gov/phenylketonuria.html - Health Topics
  2. Hyperlysinemia 
    ... characterized by elevated blood levels of the amino acid lysine, a building block of most proteins. Hyperlysinemia is ... Rabier D. Biomarkers identified in inborn errors for lysine, arginine, and ornithine. J Nutr. 2007 Jun;137(6 Suppl 2):1669S-1672S. doi: 10.1093/jn/137.6.1669S. Citation on PubMed
    https://medlineplus.gov/genetics/condition/hyperlysinemia - Genetics
  3. Tyrosinemia 
    ... disorder characterized by problems breaking down the amino acid tyrosine, which is a building block of most proteins. ...
    https://medlineplus.gov/genetics/condition/tyrosinemia - Genetics
  4. APP gene 
    ... amyloid precursor protein. This variant replaces the amino acid valine with the amino acid isoleucine at protein position 717 (written as Val717Ile or ...
    https://medlineplus.gov/genetics/gene/app - Genetics
  5. CBS gene 
    ... synthase. The most common mutation substitutes the amino acid threonine for the amino acid isoleucine at position 278 in the enzyme (written as ... homocystinuria in the Irish population, replaces the amino acid glycine with the amino acid serine at position 307 ( ...
    https://medlineplus.gov/genetics/gene/cbs - Genetics
  6. LRRK2 gene 
    ... replaces the amino acid arginine with the amino acid glycine at protein position 1441 (written as Arg1441Gly or ... s disease cases. This mutation replaces the amino acid glycine with the amino acid serine at protein position ...
    https://medlineplus.gov/genetics/gene/lrrk2 - Genetics
  7. HRAS gene 
    ... cases of Costello syndrome; it replaces the amino acid glycine with the amino acid serine at protein position 12 (written as Gly12Ser or ... protein. The most common mutation replaces the amino acid glycine with the amino acid valine at protein position ...
    https://medlineplus.gov/genetics/gene/hras - Genetics
  8. COL2A1 gene 
    ... the pro-alpha1(II) chain. Specifically, the amino acid glycine is replaced with a different amino acid at ... the pro-alpha1(II) chain. Specifically, the amino acid glycine is replaced with a different amino acid at ...
    https://medlineplus.gov/genetics/gene/col2a1 - Genetics
  9. COL4A1 gene 
    ... IV collagen. Specifically, the mutations replace the amino acid glycine with a different amino acid at one of ... IV collagen. Specifically, the mutations replace the amino acid glycine with a different amino acid at one of ...
    https://medlineplus.gov/genetics/gene/col4a1 - Genetics
  10. SERPINI1 gene 
    ... or fifties. This genetic change replaces the amino acid serine with the amino acid proline at position 49 ... severe mutations, called neuroserpin Portland, replaces the amino acid serine with the amino acid arginine at position 52 ...
    https://medlineplus.gov/genetics/gene/serpini1 - Genetics
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