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Results 1 - 10 of 30 for GLYCINE OR PHENYLALANINE OR ISOLEUCINE OR THREONINE OR TYROSINE OR LYSINE OR VALINE OR SERINE OR glutamine ACID OR ARGININE OR LEUCINE OR ALANINE OR PROLINE OR ASPARTIC ACID OR METHIONINE OR TRYPTOPHAN 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. 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
  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. Guanidinoacetate methyltransferase deficiency 
    ... compound creatine from the protein building blocks (amino acids) glycine, arginine, and methionine. Specifically, guanidinoacetate methyltransferase controls the ...
    https://medlineplus.gov/...idinoacetate-methyltransferase-deficiency - Genetics
  7. 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
  8. 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
  9. 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
  10. Dopa-responsive dystonia 
    ... enzyme tyrosine hydroxylase, which helps convert the amino acid tyrosine to dopamine.Mutations in the GCH1 or SPR ...
    https://medlineplus.gov/genetics/condition/dopa-responsive-dystonia - Genetics
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