It's #poddrop friday Dr Spiegel and Dr Schwahn discuss Molybdenum cofactor deficiency and the promise of treatment with cPMP in MoCD-A. Soundcloud: soundcloud.com/user-109006120… Apple: soundcloud.com/user-109006120… Spotify: open.spotify.com/episode/7Ggp50… Or search for #JIMDPodcasts #podcast

Thank you SIMD for the opportunity to present on the diff dx for + ALD NBS including ZSD, D-bifunctional protein deficiency, AGS, neonatal lupus, and peanut butter 🥜 with Drs. Fraser (Jamie Fraser, MD, PhD, DABMGG🧬🧠🧫🔬), Galarreta Aima, Vanderver, and Scott #SIMD2024

Enjoyed Dr. Kuntal Sen's presentation on a treatble B6 disorder.

Dr Andreas Schulze reminds us who is impacted by a failed clinical trial. We have a responsibility (?obligation) to our patients to ensure good trial design

Looking for better eye outcomes in LCHADD? The answer is earlier diagnosis. Melanie Gillingham and colleagues compare chorioretinopathy in young people and adults when the diagnosis follows symptomatic presentation as opposed to NBS doi.org/10.1002/jimd.1… #visualabstract #FAOD

Shawn McCandless discussed the impact of newborn screen and long term follow up #SIMD2024

Nick Ah Mew discussing OTC deficiency and this opinion paper on what conditions should undergo newborn sequencing. It is a good paper ( #PDE included, so I am biased) #SIMD2024

The end of #SIMD2024. I saw old friends. Heard amazing talks. Was blown away by our "newer" colleagues. And booked a NKTB concert. A great meeting! SIMD Kuntal Sen, MD, FACMG Kristina Ozog

Annemik van Wegberg discusses how a group of US researchers and European researchers read the same papers and reached different conclusions. #DMIMD2024 Is structure of medical reimbursement in the States a factor? sciencedirect.com/science/articl…

The Organic Acidemia is proud to represent our community at the GMDI- Genetic Metabolic Dietitians International conference in Charlotte NC. We are located in the far back wall - come find us!

Great to see one of my clinical mentors at the plenary session Anam A talking about gene based therapies. Learned a lot about rare disease program development from the team Children's Hospital Colorado Drs. Julie Parsons & Scott Demarest. Love working with Susan Matesanz at Children's Hospital

The next two webinars for CurePDE look amazing! In April a Jen discusses her families 12 year journey with PDE and, in May, Dr. Sid Gospe talks about B6 responsive seizures in general. #PDE tinyurl.com/CurePDEtalks

The Organic Acidemia Association congratulates two of our OAA parents who are being honored with a Rare Impact Award! Jana Monaco and Irfan Patel!

Excited to share that our paper on OTC heterozygotes using Urea Cycle Disorders Consortium database is now published, representing the largest cohort (302 patients) to date. Grateful to Andrea Gropman and Dr. Bedoyan UPMC Children's Hospital of Pittsburgh for their invaluable mentorship. onlinelibrary.wiley.com/doi/10.1002/mg…

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

Presenting our work on #PDE at #SLEIMPN. It is hard to summarize 15 years of work in 30 min. And hopefully emphasize the importance of collaboration with families and international colleagues.

First day at #SLEIMPN and I was grateful to meet one of the families impacted by #HCU. The Families and Patients booth is by far the most impactful! HCU Network America Organic Acidemia Asn

Always great to hear Dr. David Bick argue for Genomic newborn screening for #PDE. #ASHG24

Oren Gottfried, MD Plasma and CSF glycine (amino acid panel) - NKH and other mito/metabolic causes. Pyridoxine— just in case it works. Stat exome sequencing.

We are excited to share our recent work on newborn screening for #PDE. This is a treatable disorder and a delay in diagnosis and treatment occurs far too often. #rarediseases Feasibility of newborn screening for pyridoxine-dependent epilepsy sciencedirect.com/science/articl…