A recent study, involving children of ages 12 and older with PA or MMA, found an interesting approach in assessing individuals’ abilities to understand, think, and reason.
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This episode of the DNA Today podcast discusses how propionic and methylmalonic acidemia affect the body, the goal of HemoShear’s investigation therapy (HST5040) that is currently in development, mindfulness and coping with a diagnosis, and why the FDA tends to fast-track therapies that target orphan/rare diseases.
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The Propionic Acidemia Foundation is a 501(c)3 non-profit organization dedicated to finding improved treatments and a cure for Propionic Acidemia by funding research and providing information and support to families and medical professionals.
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Hello everyone. I am 35 years old and I have Propionic Acidemia (PA). Life with PA is not always easy. I was diagnosed late, which caused me to have a stroke at a very young age. After years of needing a wheelchair and walker, I made a somewhat normal recovery.
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Dr. Chapman is a leading expert in PA and serves as the director of the mitochondrial disorders clinic at Children’s National. Read on to learn more about Dr. Chapman’s work, and why she feels that clinical trials are a crucial pathway to rare disease therapies.
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The Organic Acidemia Association is a non-profit organization whose mission is to empower families and health care professionals with knowledge in organic acidemia metabolic disorders. Learn more about their patient registry, a new Metabolic balancer app, and their newborn screening resources.
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