Sannae, Methylmalonic Acidemia, (MMA Mut 0) “I was only just born when my parents started to feel that something wasn’t right with my health,” Sannae says. “I had trouble eating and was weak and lethargic. I also looked very pale.
New Research Provides Insight Into How Propionic Acidemia Changes Liver Metabolism Guo-Fang Zhang, PhD, Duke University Propionic acidemia (PA) is caused by deficiency of an enzyme called propionyl-CoA carboxylase (PCC), which is needed to break down propionyl-CoA. When PCC does
Insurance coverage can fall short, but help is available. Recap from today’s NORD webinar on insurance coverage of medical foods and nutrition, plus an update on OAA’s Patient Assistance Program For families managing MMA, PA, CblC deficiency, GA-1, and other
Barriers to Accessing Medical Foods and Formula Research Study Powered By EmbedPress If you’re a caregiver for a child with an Inborn Error of Protein Metabolism, I would love to hear from you! My name is Kara, and I’m a graduate
Every Meal Is a Science Experiment: Raising Zara with Isovaleric Acidemia At the center of every calculation is not a medical condition. It is Zara. Curtis, father to Zara When people first meet our daughter Zara, they do not see
Webinar Recap: NIH Research Updates with Dr. Venditti https://youtu.be/wSKwmfyrZhE With our biennial Family Conference pushed to next summer, OAA hosted a special research webinar to keep our community connected to the latest developments at the National Institutes of Health. We
Research Summary: Dr. Charles Venditti’s research at ASGCT 2026 Dr. Charles Venditti is a Senior Investigator and Head of the Organic Acid Research Section at the National Human Genome Research Institute (NHGRI), part of the National Institutes of Health. A
Webinar Recap – Rare Disease Clinical Trial Design: Start with the Patient and Use the Best Science https://youtu.be/Pas3Mq6cufM In our latest Organic Acidemia Association (OAA) webinar, “Rare Disease Clinical Trial Design: Start with the Patient and Use The Best Science,”
Genotype-Phenotype Relationships Traits are the characteristics that define an individual. Traits can be physical, behavioral, or physiological, and are often referred to in the scientific community as a phenotype. While phenotypes are often influenced by external factors, including nutrition, lifestyle,
Our Journey with Propionic Acidemia in Ecuador: Eithan’s Story English Spanish English Eithan Arana is a 5-year-old boy from Ecuador, the youngest child in a family of four, with an older brother who is 8 years old. His story reflects
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