Worried about grandma?
My grandson has been confirmed by the hospital to have methylmalonic acidemia.
However, he has gained 2 kilograms and grown 6 centimeters in height while drinking milk for the past two months, and he seems to be in good spirits.
I have great respect for doctors and trust medicine, but since this is a lifelong condition, I am hesitant to overlook anything.
Could you please advise, Dr.
Hou, is there a possibility of a testing error for this condition? Is it really possible for someone with this condition to show no symptoms before the onset of the disease? I would greatly appreciate your guidance.
Thank you very much.
A Yue, 50~59 year old female. Ask Date: 2005/09/17
Dr. Hou Jiawei reply Rare Disease
Symptoms of methylmalonic acidemia vary by individual, but most are related to different mutations causing the deficiency.
Some children may experience transient elevations in methylmalonic acid due to immature enzyme function at birth, and retesting is recommended.
Reply Date: 2005/09/17
More Info
Methylmalonic Acidemia (MMA) is a rare metabolic disorder characterized by the body's inability to process certain proteins and fats properly due to a deficiency of the enzyme methylmalonyl-CoA mutase or a deficiency in the vitamin B12-dependent pathway. This condition leads to the accumulation of methylmalonic acid in the blood and urine, which can cause a variety of health issues, particularly affecting the nervous system and metabolism.
Your concerns as a grandparent are completely valid, especially when it comes to understanding the implications of a diagnosis like MMA. It is important to note that while MMA is a lifelong condition, many individuals with the disorder can lead relatively normal lives, especially with early diagnosis and appropriate management.
Regarding your question about the possibility of diagnostic errors, it is indeed possible for metabolic disorders to be misdiagnosed, particularly if the testing is not comprehensive or if the symptoms are subtle. However, the diagnosis of MMA typically involves specific biochemical tests that measure the levels of methylmalonic acid in the blood and urine, as well as genetic testing to identify mutations in the genes associated with the disorder. If there are any doubts about the diagnosis, it is advisable to seek a second opinion or further testing from a specialist in metabolic disorders.
As for the symptoms, it is not uncommon for infants with MMA to appear healthy and show no symptoms initially. Many metabolic disorders can be asymptomatic at birth or during the early months of life, only to present symptoms later as the body’s metabolic demands increase or during periods of stress, illness, or dietary changes. In some cases, symptoms may include vomiting, lethargy, developmental delays, or failure to thrive, but these may not manifest until later.
In terms of management, dietary intervention is crucial for individuals with MMA. This typically involves a protein-restricted diet to minimize the intake of certain amino acids that contribute to the buildup of methylmalonic acid. Some patients may also require supplementation with vitamin B12, depending on the specific type of MMA they have. Regular monitoring of metabolic parameters is essential to prevent metabolic crises, which can be life-threatening.
It is also important to maintain a close relationship with healthcare providers, including metabolic specialists, dietitians, and genetic counselors, who can provide guidance tailored to your grandson's specific needs. They can help you understand the condition better, monitor his health, and adjust dietary and medical interventions as necessary.
In summary, while MMA is a serious condition, many patients can thrive with appropriate management. It is essential to stay informed, advocate for your grandson's health, and maintain open communication with healthcare providers. If you have any further questions or concerns, do not hesitate to reach out to your healthcare team for support and guidance.
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