Search

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.

















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.

Read More

From The Chairman’s Desk

On July the 21st the MSUD Board of Directors traveled to Bethesda, Maryland for our annual Board meeting. We stayed at the Hyatt Regency in Bethesda.

Read More

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.

Read More

I want to help out, but I don’t know how

Have you ever wanted to help out the MSUD Family Support Group but were unsure about how to contribute? The MSUD Family Support Group is actively looking for volunteers to assist with advocacy and fundraising efforts.

Read More

MSUD Advocacy Update

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

Read More

From The Editor

Hello to my MSUD family! The power of this family hit home this summer, when Hannah (Classic MSUD age 23 years) and I visited Israel.

Read More

Transform

A Child's Life

Subscribe to our mailing list

Signup To Our Newsletter Signup with your email address to receive news and updates