(CMAMMA) Combined Malonic and Methylmalonic Aciduria

Methylmalonic acidemia is an inherited disorder in which the body is unable to process certain proteins and fats (lipids) properly. The effects of methylmalonic acidemia vary from mild to life-threatening. This condition, which usually appears in early infancy, is characterized by vomiting, dehydration, weak muscle tone (hypotonia), and excessive tiredness (lethargy). Without treatment, the disorder can lead to coma and death in some cases.

hollyHolly, CMAMMA, Age 54

I’m Holly, I’m 54 years old and was diagnosed with CMAMMA in 2017. It is combined malonic and methylmalonic aciduria with high levels of malonic acid and methylmalonic acid. This form of MMA has higher levels of methylmalonic acid than malonic acid in the urine. I was experiencing very scary headaches while I happened to be doing the Keto diet, a connection I didn’t put together until much later at the NIH. The headaches would usually come on in the evenings shooting up the side of my head then I would feel a tingly sensation and became very foggy brained. I was afraid to fall asleep, worried I was having a cerebral hemorrhage like my grandmother, and I have children and not prepared to have a serious health crisis. This went on for a couple of weeks, not every day but enough to tell me something was really wrong. I’m not an anxious person but this was giving me anxiety. When I was able to see my doctor, Dr. Nicole Sudduth, my internist, she performed a neuro exam and thankfully there weren’t any issues there. We talked through everything again and she decided to run some blood tests. One of them happened to be the MMA test and Homocysteine. She really wasn’t expecting it would produce anything and we were both surprised it did. When the results came back we had no idea what it even meant. The range for MMA was (87-318) I was at 7,180, homocysteine was 13.8. I know now these numbers aren’t as high as others with an MMA diagnosis but it was very scary for me especially since there was zero information online at that time on adults with elevated MMA.

Meet Our Kids

Recent Articles

Holiday Fundraiser – Texas Roadhouse Gift Cards!
2024 OAA Fundraising Calendar Ready to Purchase!
Demo Derby Sibling Honors Brother and others with Organic Acidemias!
Meadow, 3-MCC
Leo – Isovaleric Acidemia, Age 20 months
Summer 2023 OAA Newsletter (Digital Version Available Now!)
Webinar Discussion on Liver/Kidney Transplant with other OAA Families
Join Us for a Dietician Talk-Exclusively for OAA Families
Update on the Rapid Blood Ammonia Testing Instrument
Katie – Glutaric Acidemia, Type 1
Cameron, Methylmalonic Acidemia, Cbl C, Age 6 years
Nolan, Propionic Acidemia, Age 18 months
Winter 2023 OAA Newsletter (Digital Version Available Now!)
Select Language