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3MCC (3-Methylcrotonyl CoA Carboxylase Deficiency), Age 18

My name is Meadow, I am an 18-year-old from Maryland and I was diagnosed with 3MCC (3-Methylcrotonyl CoA Carboxylase Deficiency) when I was just 1 week old. 3MCC is an Organic Acid disorder that is inherited from both parents. This condition is detected in an estimated 1 in 36,000 newborns worldwide. When this particular enzyme is missing or “not working correctly” it doesn’t help break down leucine properly. All foods with protein contain leucine.  If I eat too much protein, harmful matter can build up in the blood and cause a metabolic crisis.

As an infant, I was breastfed and on a supplemental prescription formula. As long as I can remember I have been visiting my Geneticist and Nutritionist at Johns Hopkins one to two times a year.  I must have a low-leucine diet and take supplements such as biotin and L-carnitine. I have been incredibly lucky to have only experienced three metabolic crises in my lifetime.  I first had a metabolic crisis when I was just 3 years old. I had a high fever, continuous vomiting, and was very lethargic and dehydrated.  I was hospitalized for 4 days, given plenty of fluids, and lots of bloodwork, and observed until my levels became normal.

For the most part, I grew up being a very healthy kid. I was very active and played field hockey into High School. I followed my nutritionist’s guidelines and for the most part never really became sick again until my family and I caught COVID. When I had COVID I was very scared.  Luckily, since I was older, I did not have to be hospitalized because my parents kept me hydrated and took great care of me. I had my last metabolic crisis just this year in January. I did have to go to the emergency room, but after several hours of being hooked up to IV fluids, I was able to come home.

I believe as I get older, I will continue to live a healthy and somewhat “normal” life as long as I take my supplements, eat a healthy low-protein diet, and take proper precautions to keep myself from catching any illnesses.


Church Hill, MD


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