Thank you Paul for this info. In regards to a "clinical diagnosis" she only
has AS by symptoms, genetically all tests for AS have been negative(FISH,
methylation, UPD, UBE3A). When doctors diagnose by symptom alone it is
considered clinical rather than genetic. I am interested in what specific
amino and organic acids are abnormal in tetrahydrofolate reductase
deficiency. Tessa has had some weird levels but never to the point of using
then as diagnosis. When I went to OMIM to check about THFR deficiency it
cross referenced to MTHFR deficicency which I have heard about in relation to
AS. How can she be tested for THFR deficiency? Is it by blood or urine?

Teresa