(CMAMMA) Combined Malonic and Methylmalonic Aciduria

Combined malonic and methylmalonic aciduria (CMAMMA) is a condition characterized by high levels of certain chemicals, known as malonic acid and methylmalonic acid, in the body. A distinguishing feature of this condition is higher levels of methylmalonic acid than malonic acid in the urine, although both are elevated. The signs and symptoms of CMAMMA can begin in childhood. In some children, the buildup of acids causes the blood to become too acidic (ketoacidosis), which can damage the body's tissues and organs. Other signs and symptoms may include involuntary muscle tensing (dystonia), weak muscle tone (hypotonia), developmental delay, an inability to grow and gain weight at the expected rate (failure to thrive), low blood sugar (hypoglycemia), and coma. Some affected children have an unusually small head size (microcephaly). Other people with CMAMMA do not develop signs and symptoms until adulthood. These individuals usually have neurological problems, such as seizures, loss of memory, a decline in thinking ability, or psychiatric diseases.

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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.

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