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Results 1 - 10 of 75 for ISOLEUCINE OR PHENYLALANINE OR THREONINE OR GLYCINE OR LYSINE OR VALINE OR SERINE OR ARGININE OR LEUCINE OR ALANINE OR METHIONINE OR TRYPTOPHAN OR PROLINE OR HISTIDINE OR CYSTEINE
  1. Arginine:glycine amidinotransferase deficiency 
    Arginine:glycine amidinotransferase deficiency is an inherited disorder that primarily affects the brain. People with this disorder have mild to moderate intellectual ...
    https://medlineplus.gov/...nineglycine-amidinotransferase-deficiency - Genetics
  2. Phenylketonuria 
    ... that increases the levels of a substance called phenylalanine in the blood. Phenylalanine is a protein building block (an amino acid) ... some artificial sweeteners. If PKU is not treated, phenylalanine can build up to harmful levels in the ...
    https://medlineplus.gov/genetics/condition/phenylketonuria - Genetics
  3. Hyperlysinemia 
    ... by elevated blood levels of the amino acid lysine, a building block of most proteins. Hyperlysinemia is ... shortage (deficiency) of the enzyme that breaks down lysine. Hyperlysinemia typically causes no health problems, and most ...
    https://medlineplus.gov/genetics/condition/hyperlysinemia - Genetics
  4. Hyperprolinemia 
    ... a particular protein building block (amino acid), called proline, in the blood. This condition generally occurs when proline is not broken down properly by the body. ...
    https://medlineplus.gov/genetics/condition/hyperprolinemia - Genetics
  5. Histidinemia 
    ... by elevated blood levels of the amino acid histidine, a building block of most proteins. Histidinemia is ... shortage (deficiency) of the enzyme that breaks down histidine. Histidinemia typically causes no health problems, and most ...
    https://medlineplus.gov/genetics/condition/histidinemia - Genetics
  6. Nonketotic hyperglycinemia 
    ... by abnormally high levels of a molecule called glycine in the body (hyperglycinemia). The excess glycine builds up in tissues and organs, particularly the ...
    https://medlineplus.gov/.../condition/nonketotic-hyperglycinemia - Genetics
  7. Phosphoglycerate dehydrogenase deficiency 
    ... production of the protein building block (amino acid) serine. Specifically, the enzyme converts a substance called 3- ... to 3-phosphohydroxypyruvate in the first step in serine production. Serine is necessary for the development and ...
    https://medlineplus.gov/...phosphoglycerate-dehydrogenase-deficiency - Genetics
  8. Beta-ureidopropionase deficiency 
    ... carbamyl-beta-aminoisobutyric acid and N-carbamyl-beta-alanine to be released in the urine. Neurological problems ... acid and also breaks down N-carbamyl-beta-alanine to beta-alanine, ammonia, and carbon dioxide. Both ...
    https://medlineplus.gov/.../beta-ureidopropionase-deficiency - Genetics
  9. Hypermethioninemia 
    ... a particular protein building block (amino acid), called methionine, in the blood. This condition can occur when methionine is not broken down (metabolized) properly in the ...
    https://medlineplus.gov/genetics/condition/hypermethioninemia - Genetics
  10. Methylmalonic acidemia with homocystinuria 
    ... the amino acid homocysteine to another amino acid, methionine. Individuals with this disorder have a combination of ... but for another enzyme that converts homocysteine to methionine. The body uses methionine to make proteins and ...
    https://medlineplus.gov/...ethylmalonic-acidemia-with-homocystinuria - Genetics
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