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Results 1 - 10 of 45 for THREONINE OR HISTIDINE OR LYSINE OR VALINE OR PHENYLALANINE OR LEUCINE OR ISOLEUCINE OR TRYPTOPHAN OR METHIONINE OR ARGININE
  1. Arginine:glycine amidinotransferase deficiency 
    Arginine:glycine amidinotransferase deficiency is an inherited disorder that primarily affects the brain. People with this disorder ... especially when they have a fever.Children with arginine:glycine amidinotransferase deficiency may not gain weight and ...
    https://medlineplus.gov/...nineglycine-amidinotransferase-deficiency - Genetics
  2. 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
  3. 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
  4. 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
  5. 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
  6. 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
  7. Arginase deficiency 
    ... an inherited disorder that causes the amino acid arginine (a building block of proteins) and ammonia to ... cycle, which produces urea by removing nitrogen from arginine. In people with arginase deficiency, arginase is damaged ...
    https://medlineplus.gov/genetics/condition/arginase-deficiency - Genetics
  8. 3-hydroxy-3-methylglutaryl-CoA lyase deficiency 
    ... a particular protein building block (amino acid) called leucine. Additionally, the disorder prevents the body from making ... for energy. Specifically, it is responsible for processing leucine, an amino acid that is part of many ...
    https://medlineplus.gov/...oxy-3-methylglutaryl-coa-lyase-deficiency - Genetics
  9. Beta-ketothiolase deficiency 
    ... process a protein building block (amino acid) called isoleucine. This disorder also impairs the body's ability ... the diet. Specifically, the ACAT1 enzyme helps process isoleucine, which is a building block of many proteins, ...
    https://medlineplus.gov/.../condition/beta-ketothiolase-deficiency - Genetics
  10. Sepiapterin reductase deficiency 
    Sepiapterin reductase deficiency is a condition characterized by movement problems, most often a pattern of involuntary, sustained muscle contractions known as dystonia. ...
    https://medlineplus.gov/.../sepiapterin-reductase-deficiency - Genetics
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