Please send e-mail to the following address if you have some questions about ketone body metabolism and you would like to ask us to perform enzymatic and molecular diagnosis. Please consult me before sending samples.


Mail address:


I here put some forms for enzyme and molecular diagnosis.


We will not perform enzyme assay nor mutation analysis without clinical information using (1) or (2) form.

We will not perform mutation analysis without the form (3)


1) questionnaire form for T2 deficiency— T2questionnaire

2) questionnaire for SCOT deficiency —- SCOTquestionnaire

3) Informed consent form for DNA analysis (should be signed by the physicians who get informed consent for the DNA analysis)—–ConsentForm