Skip navigation

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS
A lock ( ) or https:// means you’ve safely connected to the .gov website. Share sensitive information only on official, secure websites.

Results 1 - 10 of 46 for ALANINE OR ARGININE OR CYSTEINE OR GLYCINE OR HISTIDINE OR ISOLEUCINE OR LEUCINE OR LYSINE OR METHIONINE OR PHENYLALANINE OR PHOSPHORIC ACID OR PROLINE OR SERINE OR THREONINE OR TRYPTOPHAN OR VALINE
  1. Histidinemia 
    ... characterized by elevated blood levels of the amino acid histidine, a building block of most proteins. Histidinemia is ... making an enzyme called histidase. Histidase breaks down histidine to a molecule called urocanic acid. Histidase is active (expressed) primarily in the liver ...
    https://medlineplus.gov/genetics/condition/histidinemia - Genetics
  2. Hyperlysinemia 
    ... characterized by elevated blood levels of the amino acid lysine, a building block of most proteins. Hyperlysinemia is ... 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. Maple syrup urine disease 
    ... essential for breaking down the amino acids leucine, isoleucine, and valine, which are present in many kinds of food, ... protein complex, preventing the normal breakdown of leucine, isoleucine, and valine. As a result, these amino acids and their ...
    https://medlineplus.gov/genetics/condition/maple-syrup-urine-disease - Genetics
  4. Hypermethioninemia 
    ... converted back to methionine or into another amino acid, cysteine.Variants in one of these genes result in ... article on PubMed Central Biochemistry (fifth edition, 2002): Methionine Metabolism Brosnan JT, Brosnan ME. The sulfur-containing amino acids: an overview. J Nutr. 2006 Jun;136(6 ...
    https://medlineplus.gov/genetics/condition/hypermethioninemia - Genetics
  5. 3-hydroxy-3-methylglutaryl-CoA lyase deficiency 
    ... for energy. Specifically, it is responsible for processing leucine, an amino acid that is part of many proteins. HMG-CoA ... to process leucine or make ketones properly. When leucine is not processed ... called organic acids can result in metabolic acidosis. A shortage of ...
    https://medlineplus.gov/...oxy-3-methylglutaryl-coa-lyase-deficiency - Genetics
  6. Short/branched chain acyl-CoA dehydrogenase deficiency 
    ... and evidence for distinct acyl-CoA dehydrogenases in isoleucine and valine metabolism. Am J Hum Genet. 2000 Nov;67(5):1095-103. doi: 10.1086/303105. Epub 2000 Sep 29. Citation on PubMed or Free ... SH. Inborn errors of isoleucine degradation: a review. Mol Genet Metab. 2006 Dec; ...
    https://medlineplus.gov/...d-chain-acyl-coa-dehydrogenase-deficiency - Genetics
  7. Epidermolytic hyperkeratosis 
    ... SJ, DiGiovanna JJ, Compton JG, Steinert PM. A leucine----proline mutation in the H1 subdomain of keratin 1 ...
    https://medlineplus.gov/.../condition/epidermolytic-hyperkeratosis - Genetics
  8. Glutaric acidemia type I 
    ... enzyme that helps break down the amino acids lysine, hydroxylysine, and tryptophan, which are building blocks of protein. Excessive levels ... enzyme is involved in processing the amino acids lysine, hydroxylysine, and tryptophan.Mutations in the GCDH gene prevent production of ...
    https://medlineplus.gov/genetics/condition/glutaric-acidemia-type-i - Genetics
  9. 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 properly.GATM ... amidinotransferase enzyme to participate in creatine synthesis, ...
    https://medlineplus.gov/...nineglycine-amidinotransferase-deficiency - Genetics
  10. Wilson disease 
    ... in the ATP7B gene, it appears that having methionine instead of valine at position 129 of the prion protein is ...
    https://medlineplus.gov/genetics/condition/wilson-disease - Genetics
previous · 1 · 2 · 3 · 4 · 5 · next