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Results 1 - 10 of 30 for PHENYLALANINE OR ISOLEUCINE OR THREONINE OR GLYCINE OR LYSINE OR VALINE OR TYROSINE OR SERINE OR GLUTAMIC ACID OR ARGININE OR ALANINE OR LEUCINE OR METHIONINE OR TRYPTOPHAN OR PROLINE OR ASPARTIC ACID OR HISTIDINE
Did you mean PHENYLALANINE OR ISOLEUCINE OR THREONINE OR GLYCINE OR LYSINE OR VALINE OR TYROSINE OR SERINE OR glutamine ACID OR ARGININE OR ALANINE OR LEUCINE OR METHIONINE OR TRYPTOPHAN OR PROLINE OR ASPARTIC ACID OR HISTIDINE?
  1. 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
  2. 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
  3. Maternally inherited diabetes and deafness 
    ... gene, called tRNAGlu, attaches to the amino acid glutamic acid (Glu) and adds it to growing proteins.These ...
    https://medlineplus.gov/...aternally-inherited-diabetes-and-deafness - Genetics
  4. Glutaric acidemia type I 
    ... an enzyme that helps break down the amino acids lysine, hydroxylysine, and tryptophan, which are building blocks of ... This 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
  5. Beta-ketothiolase deficiency 
    ... cannot effectively process a protein building block (amino acid) called isoleucine. This disorder also impairs the body's ability ...
    https://medlineplus.gov/.../condition/beta-ketothiolase-deficiency - Genetics
  6. Arginine:glycine amidinotransferase deficiency 
    ... atoms called a guanidino group from arginine to glycine. Guanidinoacetic acid is converted to creatine in the second step of the process. Creatine is needed for the body to store and use energy ... amidinotransferase enzyme to participate in creatine synthesis, resulting ...
    https://medlineplus.gov/...nineglycine-amidinotransferase-deficiency - Genetics
  7. Epidermolytic hyperkeratosis 
    ... Wu K, Lee ES, Steinert PM. A novel glutamic acid to aspartic acid mutation near the end of ...
    https://medlineplus.gov/.../condition/epidermolytic-hyperkeratosis - Genetics
  8. Phenylketonuria 
    ... called phenylalanine hydroxylase. This enzyme converts the amino acid phenylalanine into other important compounds in the body. PAH ... altered versions of phenylalanine hydroxylase that cannot process phenylalanine effectively. As a result, this amino acid can build up to toxic levels in the ...
    https://medlineplus.gov/genetics/condition/phenylketonuria - Genetics
  9. Short/branched chain acyl-CoA dehydrogenase deficiency 
    ... a chemical reaction that helps process the amino acid isoleucine. Mutations in the ACADSB gene reduce or eliminate ...
    https://medlineplus.gov/...d-chain-acyl-coa-dehydrogenase-deficiency - Genetics
  10. Alkaptonuria 
    ... oxidase. This enzyme helps break down the amino acids phenylalanine and tyrosine, which are important building blocks of ... process. As a result, a substance called homogentisic acid, which is produced as phenylalanine and tyrosine are broken down, accumulates in the ...
    https://medlineplus.gov/genetics/condition/alkaptonuria - Genetics
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