Propionic Acidemia Nutritional Guidelines The Nutrition Guideline Committee is happy to announce that the Organic Acidemia Workgroup has published the “Propionic Acidemia (PROP) Nutrition Guidelines” in the February, 2019 issue of Molecular Genetics and Metabolism. The article is available and can
NHGRI selects Charles P. Venditti as new chief of the Metabolic Medicine Branch by: Sonja Soo, Ph.D. Venditti to provide leadership for clinical and laboratory research programs that focus on the development of new therapies for patients with genetic disorders.
Welcome to the OAA Blog! Browse through articles covering OAA News, Our Kids, Nutrition and Journal Articles covering breakthrough research. The new OAA blog is where we will be posting regular updates, sharing our latest community news, and publishing stories
What causes high ammonia and glycine in MMA? New insight into disease mechanisms from mouse and human tissues and a possible new treatment. MMA produces unique protein modifications that contribute to disease Dr. Charles Venditti’s lab at the National Institutes
Our Kids / Matthew MMA Cbl A Hi! My name is Matthew, I was born in Tucson, Arizona on February 3, 1971. My development was fairly normal. According to my Mom, I met developmental milestones on time, talked early at
Our Kids / Elaina Rose MMA Elaina Rose was born April 23rd, 2017 weighing 6lbs 12oz and had a head full of beautiful brown hair and she was absolutely perfect. Everything was going great; we got discharged to go home
Our Kids / Avery Malonic Acidemia About two weeks after we brought our new daughter Avery home from the hospital we received a call from our pediatrician’s office telling us that the state department of health had contacted them and
Our Kids / Stephanie & Jack D2HGA I’ve been meaning to write Stephanie’s story (and now Jack’s story) for a long time. It just seemed like such a monumental task. The recent death of a very special baby boy with
Our Kids / Sherry D2HGA My daughter Sherry was born with D2HGA. It was still a very novel disease at that time. I think there may be about 60 D2HGA’s globally? At birth, she was tiny. Even at 36, I was
Our Kids / Grant & Sebastian Propionic Acidemia Our story with PA started out the same as many of yours. Our sons were born looking perfectly healthy, besides being born six weeks early and being twins. Everyone that saw them
