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Results 1 - 7 of 7 for Abnormal enzyme concentration or activity
  1. COMT gene 
    ... the COMT gene in each cell leads to abnormal regulation of ... activity and the specific mental and emotional problems characteristic ...
    https://medlineplus.gov/genetics/gene/comt - Genetics
  2. GBA1 gene 
    ... of an abnormally short, nonfunctional version of the enzyme.Variants in the ... The abnormal accumulation and storage of these substances damages tissues ...
    https://medlineplus.gov/genetics/gene/gba1 - Genetics
  3. Carbonic anhydrase VA deficiency 
    ... control of acid-base balance and reduces the activity of the four affected mitochondrial enzymes, resulting in the various biochemical abnormalities associated with ...
    https://medlineplus.gov/.../carbonic-anhydrase-va-deficiency - Genetics
  4. Congenital plasminogen deficiency 
    ... mucous membranes but does not usually result in abnormal clots in the blood vessels (thromboses). Researchers suggest that other enzymes in the blood may also break down fibrin, ...
    https://medlineplus.gov/.../congenital-plasminogen-deficiency - Genetics
  5. Cytochrome P450 oxidoreductase deficiency 
    ... P450 oxidoreductase deficiency may never come to medical attention. Cytochrome P450 oxidoreductase deficiency is caused by mutations in the POR gene. This gene provides instructions for making the enzyme cytochrome P450 oxidoreductase, which plays a critical role ...
    https://medlineplus.gov/...cytochrome-p450-oxidoreductase-deficiency - Genetics
  6. Sotos syndrome 
    ... functions as a histone methyltransferase. Histone methyltransferases are enzymes that ... regulate the activity of certain genes and can turn them on ...
    https://medlineplus.gov/genetics/condition/sotos-syndrome - Genetics
  7. Monoamine oxidase A deficiency 
    ... gene. This gene provides instructions for making an enzyme called monoamine oxidase A. This enzyme breaks down chemicals called monoamines, including serotonin, epinephrine, ...
    https://medlineplus.gov/.../condition/monoamine-oxidase-a-deficiency - Genetics