Propionic and Methylmalonic Acidemias: Defining Best Practices for Diagnosis and Treatment

Propionic acidemia (PA) is one of the most common disorders of organic acid metabolism. NBS for propionic acidemia allows for earlier treatment. However, despite early and intense medical treatment, many patients experience health problems, which may include frequent hospitalizations for metabolic crises and developing chronic medical issues such as brain, eye, heart, abdomen, and kidney problems.  

Methylmalonic acidemia (MMA) is an inherited disorder in which the body is unable to process certain proteins and lipids properly. The effects of MMA, which usually appear in early infancy, vary from mild to life-threatening. Affected infants can experience vomiting, dehydration, weak muscle tone, developmental delay, excessive tiredness, hepatomegaly, and failure to thrive. Long-term complications can include feeding problems, intellectual disability, chronic kidney disease, and pancreatitis. Without treatment, this disorder can lead to coma and death in some cases.

This accredited educational activity offers an overview of both disorders with strategies for proper interventions that can be placed into practice. 

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