(PA) Propionic Acidemia aka
Propionyl CoA Carboxylase Deficiency
Propionic acidemia is an inherited disorder in which the body is unable to process certain proteins and lipids (fats) properly. The condition, which usually appears in early infancy, is characterized by poor feeding, vomiting, weak muscle tone (hypotonia), and lethargy. The effects of propionic acidemia can be life-threatening. more >>
Facebook Group - PA Group - Support for families living with Propionic Acidemia - private group for PA families...not associated with any support group. Request to join and a message will be sent questioning if you have a child or have PA.
Informational Websites on Propionic Acidemia
- A Listing of Medical Journal Articles on Propionic Acidemia
- Severity modeling of propionic acidemia using clinical and laboratory biomarkers
- Are We There Yet?? Propionic Acidemia Nutritional Guidelines
- Information Booklet for MMA/PA Families Following a Positive Newborn Sceening
- Propionic Acidemia Research Update from Mayo Clinic
- Liver Transplantation for Propionic and Methylmalonic Acidemias by Jerry Vockley, MD, PhD
- Effective Gene Therapy for Propionic Acidemia in Mice: One Organic Acidemia Helps Another - Randy J. Chandler, Nuria Carrillo-Carrasco, and Charles P. Venditti
- Propionic Acidemia Nutritional Management Guidelines
- Article regarding Nutritional Guidelines for Propionic Acidemia
- The Association "La vita è un dono" (Life is a gift) in memory of Luca, Simone and Davide Carbone
- Propionic Acidemia Research Network (PARNet)
- Propionic Acidemia Foundation
- Kraus Lab Home Page - Mutation Information
- Computer Retrieval of Information on Scientific Projects (CRISP)
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