Methylmalonic Acidemia Write for Us
Methylmalonic acid is a disorder in which the body cannot break down specific proteins and fats. The result is a buildup of methylmalonic acid in the blood. This condition is passed down through families.
It is one of several conditions called a “congenital error of metabolism.”
Description of methylmalonic an Acidemia
A hereditary disease called methylmalonic acid causes the body’s inability to digest specific proteins and lipids (lipids) properly. Methylmalonic acid can have minor to fatal consequences; it often manifests in early childhood. An enlarged liver (hepatomegaly), vomiting, dehydration, decreased muscle tone (hypotonia), growth retardation, severe weariness (lethargy), and failure to thrive are all possible symptoms in affected children. Feeding issues, intellectual incapacity, chronic renal illness, and pancreatitis (pancreatic inflammation) are examples of long-term consequences. This condition occasionally results in coma and death if untreated.
Conclusion
Methylmalonic acid is initially an elusive genetic abnormality that is difficult to diagnose but can have different outcomes. Depending on the level of deficiency in the apoenzyme MCM or decreased synthesis of the cofactor 5′-deoxy adenosylcobalamin, the prognosis can be poor with a maximum life of only a few months, or the forecast can be hesitantly optimistic with a managed diet. MMA is most prevalent in Middle Eastern countries, including Palestine.
A hereditary disease called methylmalonic acid causes the body’s inability to digest specific proteins and lipids (lipids) properly. Methylmalonic acid can have minor to fatal consequences; it often manifests in early childhood. An enlarged liver (hepatomegaly), vomiting, dehydration, decreased muscle tone (hypotonia), growth retardation, severe weariness (lethargy), and failure to thrive are all possible symptoms in affected children. Feeding issues, intellectual incapacity, chronic renal illness, and pancreatitis (pancreatic inflammation) are examples of long-term consequences. This condition occasionally results in coma and death if untreated.
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