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Results 1 - 10 of 331 for Enzymes
  1. Myopathy with deficiency of iron-sulfur cluster assembly enzyme 
    Myopathy with deficiency of iron-sulfur cluster assembly enzyme is an inherited disorder that primarily affects muscles used for movement (skeletal muscles). This ...
    https://medlineplus.gov/...cy-of-iron-sulfur-cluster-assembly-enzyme - Genetics
  2. Glycogen storage disease type IV 
    ... gene provides instructions for making the glycogen branching enzyme. This enzyme is involved in the production of glycogen, which ... to a shortage (deficiency) of the glycogen branching enzyme. As a result, glycogen is not formed properly. ...
    https://medlineplus.gov/.../glycogen-storage-disease-type-iv - Genetics
  3. Thiopurine S-methyltransferase deficiency 
    ... condition characterized by significantly reduced activity of an enzyme that helps the body process drugs called thiopurines. ... In people who are found to have reduced enzyme activity, the drugs may be given at a ...
    https://medlineplus.gov/...thiopurine-s-methyltransferase-deficiency - Genetics
  4. Molybdenum cofactor deficiency 
    ... molybdenum, is essential to the function of several enzymes. These enzymes help break down (metabolize) different substances in the ... molybdenum cofactor biosynthesis. Without the cofactor, the metabolic enzymes that rely on it cannot function.The resulting ...
    https://medlineplus.gov/.../condition/molybdenum-cofactor-deficiency - Genetics
  5. Lesch-Nyhan syndrome 
    ... The HPRT1 gene provides instructions for making an enzyme called hypoxanthine phosphoribosyltransferase 1. This enzyme is responsible for recycling purines, a type of ...
    https://medlineplus.gov/genetics/condition/lesch-nyhan-syndrome - Genetics
  6. Aminoacylase 1 deficiency 
    ... gene. This gene provides instructions for making an enzyme called aminoacylase 1, which is involved in the ... the ACY1 gene lead to an aminoacylase 1 enzyme with little or no function. Without this enzyme' ...
    https://medlineplus.gov/genetics/condition/aminoacylase-1-deficiency - Genetics
  7. Acatalasemia 
    ... condition characterized by very low levels of an enzyme called catalase. Many people with acatalasemia never have ... acatalasemia. This gene provides instructions for making the enzyme catalase, which breaks down hydrogen peroxide molecules into ...
    https://medlineplus.gov/genetics/condition/acatalasemia - Genetics
  8. Hyperlysinemia 
    ... is caused by the shortage (deficiency) of the enzyme that breaks down lysine. Hyperlysinemia typically causes no ... The AASS gene provides instructions for making an enzyme called aminoadipic semialdehyde synthase. This enzyme performs two ...
    https://medlineplus.gov/genetics/condition/hyperlysinemia - Genetics
  9. Cytochrome c oxidase deficiency 
    ... oxidative phosphorylation. Mutations in these genes affect an enzyme complex called cytochrome c oxidase, which is responsible ... is made up of two large groups of enzymes (complexes) called holoenzymes, which are each composed of ...
    https://medlineplus.gov/.../cytochrome-c-oxidase-deficiency - Genetics
  10. Isolated hyperCKemia 
    ... a condition characterized by elevated levels of an enzyme called creatine kinase in the blood. In affected individuals, levels of this enzyme are typically 3 to 10 times higher than ...
    https://medlineplus.gov/genetics/condition/isolated-hyperckemia - Genetics
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