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MSUD is a recessive genetic disease. This means both parents of a child with MSUD must carry a mutation in the same gene (the same genetic code). These mutated genes do not function normally, thus causing disease. A person with a gene mutation is called a carrier. Carriers are not affected by their one abnormal gene. (Just as everyone carries genetic codes for things like the color of hair and eyes, everyone also carries several abnormal genes which can cause disease.)

Each individual person has two genes that code for the enzyme activity involved in the breakdown of the BCAAs-one gene coming from the father and one from the mother. If one gene functions normally, but the other does not, then the person is a carrier of MSUD. If neither gene functions normally, then that person has MSUD. It is also possible to receive the normal gene from each parent and not have any mutated genes for the disease.

When parents are both carriers of the gene for MSUD, with each pregnancy, there is a 1 in 4 chance of having a baby with MSUD, a 2 in 4 chance that the baby will have only one gene for MSUD and be a carrier like the parents, and a 1 in 4 chance that the baby will neither be a carrier nor have MSUD.

















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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Galen Carrington Classic MSUD age 27

Galen Carrington is a 27 year old Indiana resident who has classic MSUD. He underwent liver transplantation 5 years ago at Children’s Hospital

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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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MSUD Awareness Day

Now more than ever before we are hearing about National Awareness Days which are set by organizations or the government to bring attention to issues of importance.

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Sweet Odyssey

Artur Santos was born on January 18, 2002, the second son of Soraya and Idario Santos. They never imagined how their lives were about change as the second baby arrived.

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Fundraising

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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A Child's Life

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