Welcome to the OAA Blog
Browse through journal articles, get information on clinical trials and new research, and read our OAA family stories all in one place. Select a category or post below to begin.
Katie – Glutaric Acidemia, Type 1
Our Kids / Katie Glutaric Acidemia, Type 1 – Age 23 I was diagnosed with Glutaric Aciduria Type 1 when I was 6 years…
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Abbott Formula Update – April 24, 2023
Our Kids / Abbott Formula Update – April 24, 2023 New Updates from Abbott on the availability of metabolic formulas. Full details at metabolicformula.org/supplier-updates.All…
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Cameron, Methylmalonic Acidemia, Cbl C, Age 6 years
Our Kids / Cameron, Methylmalonic Acidemia, Cbl C, Age 6 Methylmalonic Acidemia caused by Cobalamin C deficiency….Before our daughter Cameron was born we had…
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Nolan, Propionic Acidemia, Age 18 months
Our Kids / Nolan, Propionic Acidemia, Age 18 Months Nolan was born in September 2021 after a healthy, low risk, and uneventful pregnancy. Initially…
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Winter 2023 OAA Newsletter (Digital Version Available Now!)
Winter 2023 OAA Newsletter The digital version of the Winter 2023 Newsletter is available now. This issue features family stories, Rare Disease Day coverage…
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NIH Gene Therapy Team Reveals Its Path to FDA Orphan Drug and Rare Pediatric Disease Designations
Our Kids / NIH Gene Therapy Team Reveals Its Path to FDA Orphan Drug and Rare Pediatric Disease Designations March 29, 2023 Platform…
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Katie – Glutaric Acidemia, Type 1
Our Kids / Katie Glutaric Acidemia, Type 1 – Age 23 I was diagnosed with Glutaric Aciduria Type 1 when I was 6 years…
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Cameron, Methylmalonic Acidemia, Cbl C, Age 6 years
Our Kids / Cameron, Methylmalonic Acidemia, Cbl C, Age 6 Methylmalonic Acidemia caused by Cobalamin C deficiency….Before our daughter Cameron was born we had…
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Nolan, Propionic Acidemia, Age 18 months
Our Kids / Nolan, Propionic Acidemia, Age 18 Months Nolan was born in September 2021 after a healthy, low risk, and uneventful pregnancy. Initially…
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Henry, MMA, Cobalamin C, Age 2
Our Kids / Henry, MMA, Cobalamin C, Age 2 Henry was born in 2020 in Missouri. I had a normal pregnancy and delivery. He…
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Destiny, Glutaric Acidemia, Type 1, 20 years old
Our Kids / Destiny, Glutaric Acidemia, Type 1, 20 years old Destiny is a bright and cheerful 20-year-old. She is our middle child of…
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Mason, Cobalamin C Deficiency, Age 7
Our Kids / Mason Cobalamin C Deficiency, Age 7 In the fall of 2014, we were living the “classic” American dream. We had a…
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Fishing for New Drugs for Propionic Acidemia
Fishing for New Drugs for Propionic Acidemia BY: VIRGINIA GINOCCHIONICOLA BRUNETTI-PIERRI, MD, FACMGASSOCIATE INVESTIGATORTELETHON INSTITUTE OF GENETICSAND MEDICINE VIA CAMPI FLEGREI 3480078 POZZUOLI (NAPOLI),…
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What causes high ammonia and glycine in MMA?
What causes high ammonia and glycine in MMA? New insight into disease mechanisms from mouse and human tissues and a possible new treatment. MMA…
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Point-of-Care Ammonia Monitoring from a Single Drop of Blood
Point-of-Care Ammonia Monitoring from a Single Drop of Blood Thomas Veltman, Ph.D., Aza Technology, Inc.tv@azatechnology.com In an earlier article in this newsletter, I described…
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PA Study at the NIH
PA Study at the NIH Natural History, Physiology, Microbiome and Biochemistry Studies of Propionic Acidemia Dr. Chuck Venditti and Dr. Oleg Shchelochkov seek Propionic…
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MMA Study at the NIH
MMA Study at the NIH The NIH has been recruiting MMA patients to their study since 2004. Below are links that describes the study…
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A Novel Gene Medicine Approach for the Treatment of Rare Early Onset Diseases
A Novel Gene Medicine Approach for the Treatment of Rare Early Onset Diseases LogicBio Therapeutics, Cambridge, MA The field of gene therapy has…
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Propionic Acidemia Nutrition Guidelines
Propionic Acidemia Nutritional Guidelines The Nutrition Guideline Committee is happy to announce that the Organic Acidemia Workgroup has published the “Propionic Acidemia (PROP)…
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Are We There Yet? Propionic Acidemia Nutritional Guidelines
Propionic Acidemia Nutritional Guidelines Are we there yet?! The Journey of the development of Propionic Acidemia Nutrition Guidelines It seems appropriate that the Propionic…
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Low Protein Food Product Companies
Low Protein Food Product Companies USDA Nutrient Database Search the USDA Nutrient Database for Standard ReferenceEnter up to 5 keywords which best describe the…
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Carnitine Treatment
Carnitine Treatmentby: Deb Lee Gould, MEd, Director, FOD Family Support Group Information in this section is made available to help individuals make informed decisions in…
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Propionic Acidemia Nutrition 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,…
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Metabolic Formula Suppliers
Metabolic Formula Suppliers Information about formulas is provided for reference only. Consult physicians, registered dietitians (nutritionists), or other medical professionals about dietary matters. Have…
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