Maggie was born in 2008 and was found on the Extended Newborn Screening (ENBS) tests to have Glutaric Aciduria Type 1.  Glutaric Aciduria or “GA1” or “GAT1” is an inherited genetic disorder in which the body is unable to break down completely the amino acids lysine, hydroxylysine and tryptophan.  This can cause brain and organ damage and we were very scared when we learned of Maggie’s condition.

Maggie  is 3 years old now and is full of life and is perfectly healthy!  She now has a baby brother, Henry, age 1, who was found by testing after birth at the hospital in 2011 to also have Glutaric Aciduria Type 1.  To manage their rare condition, they are both on a low protein diet and hospitalized for acute illness, but they are tough kids.

They are so smart and wonderful! We know they will make a big difference in the world!

3 thoughts on “Extended Newborn Screening (ENBS) Identifies Glutaric Aciduria Type 1 in Siblings”

  1. Cathy says:

    Those are beautiful children, too sweet!

  2. Hashim says:

    Pls pls pls tell me the details of your doctor and the hospital. I need to treat my daughter. Im from sri lanka

  3. Ky says:

    My nephew was just diagnosed with GA-1 about 6 hours ago. We are all heartbroken and scared. Now they are talking about treating my niece (his sister) who is 3 years old. You say Maggie is healthy? I would like to know more about your experiences if you are willing to share. Please email me.

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