Pediatrics

Research Themes

  1. Clinical practice for organic acid and lipid metabolism disorder Biochemistry, molecular biological research
  2. Research related to newly-established newborn screening systems
     

Content

1.
We are conducting research concerning the pathogenic mechanisms of monogenic disorders such as organic and fatty acid metabolism disorder. We are paying particular attention to research related to the state and cause of Organic Acid Metabolism Disorder. Organic acid metabolism disorder is an illness that arises after interference of the metabolism of amino acids, carbohydrates, and lipids.

       
   Research methods

  1. Evaluation of the dynamic state of organic acids in tissue and bodily fluids using mass analysis
  2. Exploring the absence of oxygen in protein
  3. Gene analysis
     

2.
Of the 20 types of organic acid / lipid metabolism disorder that can be diagnosed at newborn screening, if detected before onset, the diagnosed patient can have a good prognosis. We are trying to enhance the screening system in an effort to make possible diagnosis in advance of onset.