Jordan, my 23 year old son with MSUD, and I traveled to Houston, Texas again in June for the last phase of the Buphenyl trial  (see last newsletter  Vol 31, Number 1). For two weeks prior to going to Houston, he took the opposite medication (Buphenyl or placebo) of what he took earlier this year. Jordan didn’t think that this drug tasted as bad as the one he took previously and he tolerated it better.

We spent two nights at the research center and again blood and urine tests were done. His intake of formula, food, and snacks was controlled by the staff and was very similar to what he consumed during the first phase.  Jordan was comfortable during his stay and spent time doing his schoolwork, watching TV, and playing games.

If you or your child has been contemplating participating in the study, it is not too late. There is time available this fall or winter. Dr. Lee would like those with Mild or Classic MSUD with a variety of mutations to participate. If you would like to talk to me or Jordan, feel free to email me at This email address is being protected from spambots. You need JavaScript enabled to view it. or call at 740-972-5619. If you would like to talk to Mary Mullins, Dr.Lee’s research nurse, she can be contacted by email at This email address is being protected from spambots. You need JavaScript enabled to view it. or phone at 832-822-4263.

Dr. Lee expects to be in the data collection phase for approximately 2 years.  After that he will analyze his data and share his results.

MSUD Advocacy Update

Healthcare and issues facing the rare disease community have been at the forefront of national conversations over the past 6 months.

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My Trip To Israel

I met Avi, Dikla, and Tamar Starr last year at the MSUD Symposium in Raleigh, NC. Tamar, classic MSUD, was 2 ½ at the time, and they invited me to come to Israel and stay with them for a year.

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Cambrooke Foods Hosts Local Event

Cambrooke has been doing cooking demonstrations, social meet ups and educational events for patients, their families and the clinician’s that support them for many years.

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In the 2016 survey of the membership of the MSUD Family Support Group, research for improved treatments and potential cure was rated “most important” by 90% of the responding members.

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Metformin As A Possible Therapeutic Agent In The Treatment Of MSUD

The MSUD Family Support Group has provided funds to Buck Institute for its preliminary studies investigating metformin

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Adjusting Protein In An Adult With MSUD

A little over a year ago, in January, Jeff was just not himself. He had limited energy, was not eating well, and often appeared slightly agitated.

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A Child's Life

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