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Results 1 - 10 of 39 for Enzyme activity finding
  1. SDHB gene 
    ... a result, there is little or no SDH enzyme activity. Without the SDH enzyme, succinate is not converted ... a result, there is little or no SDH enzyme activity. As in GIST (described above), the reduction of ...
    https://medlineplus.gov/genetics/gene/sdhb - Genetics
  2. SDHD gene 
    ... a result, there is little or no SDH enzyme activity. Without the SDH enzyme, succinate is not converted ... a result, there is little or no SDH enzyme activity. As in GIST (described above), the reduction of ...
    https://medlineplus.gov/genetics/gene/sdhd - Genetics
  3. SDHC gene 
    ... a result, there is little or no SDH enzyme activity. Without the SDH enzyme, succinate is not converted ... a result, there is little or no SDH enzyme activity. As in GIST (described above), the reduction of ...
    https://medlineplus.gov/genetics/gene/sdhc - Genetics
  4. SDHAF2 gene 
    ... function. The FAD cofactor is required for SDH enzyme activity.The SDH enzyme plays a critical role in mitochondria, which are ...
    https://medlineplus.gov/genetics/gene/sdhaf2 - Genetics
  5. Hereditary paraganglioma-pheochromocytoma 
    ... lead to the loss or reduction of SDH enzyme activity. Because the mutated SDH enzyme cannot convert succinate to fumarate, succinate accumulates in the cell. As a result, the hypoxia pathways are triggered in normal oxygen conditions, which lead ... chain with loss of enzymatic activity and abnormal mitochondrial morphology. J Pathol. 2003 Nov; ...
    https://medlineplus.gov/...hereditary-paraganglioma-pheochromocytoma - Genetics
  6. What are the different types of genetic tests?: MedlinePlus Genetics 
    ... genetic disorder. (For example, low levels of biotinidase enzyme activity is suggestive of biotinidase deficiency , which is caused ...
    https://medlineplus.gov/genetics/understanding/testing/types - Genetics
  7. BTD gene 
    ... of the enzyme and reduce or eliminate the enzyme's activity.Most BTD gene mutations cause profound biotinidase deficiency. ... 30 percent of normal. Without enough of this enzyme, biotin cannot be recycled. ... the activity of biotin-dependent carboxylases, leading to a buildup ...
    https://medlineplus.gov/genetics/gene/btd - Genetics
  8. GLA gene 
    ... that reduce but do not completely eliminate the enzyme's activity usually cause milder, late-onset forms of the disorder. More About This Health Condition ... doi: 10.1002/humu.9327. Citation on PubMed
    https://medlineplus.gov/genetics/gene/gla - Genetics
  9. PRKAG2 gene 
    ... unclear, however, whether the genetic changes overactivate the enzyme or reduce its activity.Studies indicate that changes in AMP-activated protein ... CE, Seidman JG. Increased alpha2 subunit-associated AMPK activity and PRKAG2 ... Citation on PubMed
    https://medlineplus.gov/genetics/gene/prkag2 - Genetics
  10. CPT2 gene 
    ... reduced levels of activity. Variants that severely reduce enzyme activity typically cause the more severe forms of CPT ... infantile hepatocardiomuscular form), while those that partially reduce enzyme activity usually cause the less severe myopathic form of ...
    https://medlineplus.gov/genetics/gene/cpt2 - Genetics
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