#poddrop Friday. Hear about Lysine restriction in PDE. Curtis Coughlin II holds court in this latest episode. ‘Dietary management for pyridoxine-dependent epilepsy’ is on #SoundCloud on.soundcloud.com/fCfQtkVy2sZpCf…

New podcast: Lysine restriction in pyridoxine dependent epilepsy. Curtis Coughlin II Apple: podcasts.apple.com/gb/podcast/die… Spotify: open.spotify.com/episode/3fik5t… Soundcloud: soundcloud.com/user-109006120… #PDE #pyridoxine #dietetics Epilepsy Research Institute Network Health Digest PICEN2

A belated #visualabstract for a paper published in April 2024 illustrating the outcomes after after newborn screening for propionic and methylmalonic acidemia and homocystinurias. Read more here 👉 doi.org/10.1002/jimd.1… #homocystinuria #B12 HCU Network America

reckitt.com/media-landing/…

From our August 2024 OAA calendar cover - our incredible 3MCC and 2MBG kiddos! #organicacidemia

We are grateful to have Jana Monaco on OAA’s board. She has helped so many in our community!

How much B12 is too much, in Cobalamin C deficiency more is definitely better! Improved biochemical and neurodevelopmental profiles with high-dose hydroxocobalamin therapy in cobalamin C defect Giorgia Olivieri, et al doi.org/10.1002/jimd.1…

Late-onset methylmalonic acidemia and homocysteinemia (cblC disease): systematic review. OrphanetJournal at BMC Endocrinología y Nutrición • HGU Gregorio Marañón SENPE ACIMET | Asociación Acidemia Metilmalónica Organic Acidemia Asn ncbi.nlm.nih.gov/pmc/articles/P…

Our Isovaleric Acidemias are the “Apple of our Eye” from the September 2024 OAA calendar page #isovalericacidemia

September is Newborn Screening awareness month. In 2013 APHL published this book on newborn screening. Thanks Honey and others who shared their story to create awareness for newborn screening! aphl.org/AboutAPHL/publ… (Page 13 - Maren, PA story) #newbornscreening

September is Newborn Screening Awareness Month. Cindy, mom to Zach, GA1 worked w/March of Dimes to expand newborn screening in California...it's important to remember the work that our families did 20 years ago to expand NBS for our OA disorders! #glutaricacidemiatype1

New publication in the main journal: Newborn screening algorithm distinguishing potential symptomatic isovaleric acidemia from asymptomatic newborns Rachel Rock, et al doi.org/10.1002/jimd.1…

From the 2024 OAA October calendar page - our GA1 kiddos are celebrating the fall season! #glutaricacidemiatype1

Such an amazing weekend at the first CurePDE family meeting. Incredible to hear families share stories and watch the kids play together. I am confident that we learned more from the families this weekend than vice-versa. #PDE

Never underestimate the power of parents whose children have a rare disorder! My fellow Minnesota rare parents are featured in this article in today’s newspaper: #newbornscreening #raredisease startribune.com/minnesota-rare…

The 2024 Fall OAA newsletter should be arriving soon in your mailbox! You can also read online at: oaanews.org/wp-content/upl… Thanks to all who shared their story in this issue. If you are interested in sharing your story in the Spring 2025 issue - please let me know!

I’m attending the 2024 #NORDSummit, October 20-22, in Washington, DC! Will I see you there? This year’s theme is “Equitable Access to Innovation” in #RareDiseases. Check out the session topics and register to join me at NORDSummit.org

We're international ✈️ Our #ThinkAmmonia posters have now been translated into four different languages and are being shared around the world. Here are some images from an IMD event in Peru. Keep your eyes peeled for more updates: buff.ly/3BbaO9Y

From the 2024 November OAA calendar. A reminder that we are “All in this Together”! Racing to bring awareness! #organicacidemia