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My son was flagged at his newborn screening for high MMA levels. He also has low B12 which corrected after starting injections, so it appears he may have B12 responsive MMA. We just did a skin biopsy & it will be sent to McGill University. Those of you who have had it done, how long did it take to get results? Our doctor has given us quite a long window. She's saying 7-14 weeks. We're just anxiously waiting & wondering.
Hi there, it's been almost 13 years but our skin biopsy took about 8 weeks to get results back. I know its a long and hard wait. I think it's a wonderful sign that he is responding to the b12, my son never had a change in his MMA from the initial injections. Our biopsy results showed that my son has mma mut 0. I'm available if you'd like to chat anymore or get in touch with anymore parents who have gone through the same thing as you. I invite you to join us on our active listserv...http://groups.google.com/group/organic-acidemia-assn?hl=en
or you can email me at Loriasanchez@msn.com.
best of luck to you,
Lori Sanchez
Communication Director
Organic Acidemia Association
http://oaanews.org/
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