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), ITALYASSOCIATE PROFESSORDEPARTMENT OF TRANSLATIONAL MEDICINEFEDERICO II UNIVERSITY OF NAPLES In the last decades careful clinical and

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Rare PA Twins

A wonderful experience in the air Traveling with our PA twins has really not been much of an option for us unless it’s a 3-4 hour drive at most. They are easily car sick and long road trips just don’t

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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) Nutrition Guidelines” in the February, 2019 issue of Molecular Genetics and Metabolism. The article is available and can

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Welcome to our new OAA blog!

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

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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 produces unique protein modifications that contribute to disease Dr. Charles Venditti’s lab at the National Institutes

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Our Kids

Matthew – ​MMA Cbl A

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

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Our Kids

Elaina Rose

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

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Our Kids

Avery

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

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