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Results 1 - 10 of 14 for Enzyme activity finding
  1. 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
  2. Biotinidase deficiency 
    ... 30 percent of normal. Without enough of this enzyme, biotin cannot be recycled. The resulting shortage of free biotin impairs the activity of biotin-dependent carboxylases, leading to a buildup ...
    https://medlineplus.gov/genetics/condition/biotinidase-deficiency - Genetics
  3. Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation 
    ... gene result in decreased mitochondrial aspartyl-tRNA synthetase enzyme activity, which hinders the addition of aspartic acid to ... lactate: a genetically proven case with distinct MRI findings. J Neurol Sci. 2008 Oct 15;273(1- ...
    https://medlineplus.gov/...al-cord-involvement-and-lactate-elevation - Genetics
  4. Mucopolysaccharidosis type I 
    ... of the IDUA enzyme. The lack of IDUA enzyme activity leads to the accumulation of GAGs within cells, ... The MPS I registry: design, methodology, and early findings of a global disease registry for monitoring patients ...
    https://medlineplus.gov/.../condition/mucopolysaccharidosis-type-i - Genetics
  5. Short/branched chain acyl-CoA dehydrogenase deficiency 
    ... G, Richardson L, Alston M, Longo N. Biochemical findings in common inborn errors of metabolism. Am J ...
    https://medlineplus.gov/...d-chain-acyl-coa-dehydrogenase-deficiency - Genetics
  6. Adult polyglucosan body disease 
    ... disease: Natural History and Key Magnetic Resonance Imaging Findings. Ann Neurol. 2012 Sep;72(3):433-41. ...
    https://medlineplus.gov/.../adult-polyglucosan-body-disease - Genetics
  7. SRD5A3-congenital disorder of glycosylation 
    ... of SRD5A3 Disease-Causing Sequence Variants and Ocular Findings in Steroid 5alpha-Reductase Type 3 Congenital Disorder ...
    https://medlineplus.gov/...d5a3-congenital-disorder-of-glycosylation - Genetics
  8. Complete LCAT deficiency 
    ... syndromes: a comprehensive study of molecular and biochemical findings in 13 unrelated Italian families. Arterioscler Thromb Vasc ...
    https://medlineplus.gov/genetics/condition/complete-lcat-deficiency - Genetics
  9. Fish-eye disease 
    ... syndromes: a comprehensive study of molecular and biochemical findings in 13 unrelated Italian families. Arterioscler Thromb Vasc ...
    https://medlineplus.gov/genetics/condition/fish-eye-disease - Genetics
  10. 17-beta hydroxysteroid dehydrogenase 3 deficiency 
    ... Delvecchio M, Cavallo L. Clinical, endocrine, and molecular findings in 17beta-hydroxysteroid dehydrogenase type 3 deficiency. J ...
    https://medlineplus.gov/...hydroxysteroid-dehydrogenase-3-deficiency - Genetics
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