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Results 1 - 10 of 43 for HISTIDINE OR THREONINE OR LYSINE OR VALINE OR PHENYLALANINE OR LEUCINE OR ISOLEUCINE OR TRYPTOPHAN OR METHIONINE OR CYSTEINE
  1. 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
  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. 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
  4. 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
  5. 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
  6. 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
  7. 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
  8. 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
  9. Cystinuria 
    Cystinuria is a condition characterized by the buildup of the amino acid cystine, a building block of most proteins, in the kidneys and bladder. As the kidneys ...
    https://medlineplus.gov/genetics/condition/cystinuria - Genetics
  10. 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 ...
    https://medlineplus.gov/genetics/condition/glutaric-acidemia-type-i - Genetics
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