Propionic acidemia
| Propionic acidemia | |
 | |
|---|---|
| Propionic acid | |
| ICD-10 | E71.1 |
| ICD-9 | 270.3 |
| OMIM | 606054 |
| DiseasesDB | 29673 29904 |
| eMedicine | ped/1906 |
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Propionic acidemia is an inherited disorder of inborn error of intermediary metabolism that may present in the early neonatal period with progressive encephalopathy. Death can occur at anytime due to secondary hyperammonemia, infection due to immune system suppression, cardiomyopathy, or basal ganglial stroke.
Incidence
Propionic acidemia is inherited in an autosomal recessive pattern and occurs in about 1 in 100,000 live births in the United States. The condition appears to be more common in Saudi Arabia with a frequency of 1 in 2,000 to 5,000 people. The condition also appears to be more common in Old Order Amish populations.
Symptoms
Individuals with propionic acidemia are unable to process certain amino acids, which make up protein, and lipids properly. The condition, which usually appears in early infancy, is characterized by poor feeding, vomiting, weak muscle tone (hypotonia), seizures, and lethargy. The effects of propionic acidemia can be life-threatening.
Cause
Mutations in the PCCA and PCCB genes cause propionic acidemia. The PCCA and PCCB genes make protein subunits that come together to form an enzyme called propionyl-CoA carboxylase (EC 6.4.1.3). This enzyme is responsible for one step in the breakdown of several amino acids, certain lipids, and cholesterol. Mutations in the PCCA or PCCB gene disrupt the function of the enzyme, preventing these molecules from being broken down. As a result, a substance called propionyl-CoA, propionic acid and other potentially toxic compounds can accumulate, causing the signs and symptoms of propionic acidemia.
See also
External links
- Propionic Acidemia Foundation
- Organic Acidemia Association
- Propionic Acidemia Research Network (PARnet)
- Overview of condition at NLM Genetics Home Reference This article incorporates public domain text from this source
WikiDoc Research Resources for Propionic acidemia | |
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| Articles on Propionic acidemia | Most recent articles on Propionic acidemia • Most cited articles on Propionic acidemia • Review articles on Propionic acidemia • Articles on Propionic acidemia in N Eng J Med, Lancet, BMJ |
| Media (Slides, Video, Images, MP3) on Propionic acidemia | Powerpoint slides on Propionic acidemia • Images of Propionic acidemia • Photos of Propionic acidemia • Podcasts & MP3s on Propionic acidemia • Videos on Propionic acidemia |
| Evidence Based Medicine Regarding Propionic acidemia | AND (Cochrane Database Syst Rev[http://worldselectshop.com/?id=9361 Cochrane Collaboration on Propionic acidemia • Bandolier on Propionic acidemia • TRIP on Propionic acidemia |
| Cost Effectiveness of Propionic acidemia | AND (Cost effectiveness) |
| group5 = Clinical Trials Involving Propionic acidemia | list5 = Ongoing Trials on Propionic acidemia at Clinical Trials.gov • Trial results on Propionic acidemia • Clinical Trials on Propionic acidemia at Google
| group6 = Guidelines / Policies / Government Resources (FDA/CDC) Regarding Propionic acidemia
| list6 = US National Guidelines Clearinghouse on Propionic acidemia • NICE Guidance on Propionic acidemia • NHS PRODIGY Guidance • FDA on Propionic acidemia • CDC on Propionic acidemia
| group7 = Textbook Information on Propionic acidemia
| list7 = Books and Textbook Information on Propionic acidemia
| group8 = Pharmacology Resources on Propionic acidemia
| list8 =
AND (Dose)}} Dosing of Propionic acidemia • AND (drug interactions)}} Drug interactions with Propionic acidemia • AND (side effects)}} Side effects of Propionic acidemia • AND (Allergy)}} Allergic reactions to Propionic acidemia • AND (overdose)}} Overdose information on Propionic acidemia • AND (carcinogenicity)}} Carcinogenicity information on Propionic acidemia • AND (pregnancy)}} Propionic acidemia in pregnancy • AND (pharmacokinetics)}} Pharmacokinetics of Propionic acidemia •
| group9 = Genetics, Pharmacogenomics, and Proteinomics of Propionic acidemia
| list9 =
AND (pharmacogenomics)}} Genetics of Propionic acidemia • AND (pharmacogenomics)}} Pharmacogenomics of Propionic acidemia • AND (proteomics)}} Proteomics of Propionic acidemia
| group10 = Newstories on Propionic acidemia
| list10 = Propionic acidemia in the news • Be alerted to news on Propionic acidemia • News trends on Propionic acidemia</small>
| group11 = Commentary on Propionic acidemia
| list11 =
Blogs on Propionic acidemia
| group12 = Patient Resources on Propionic acidemia | list12 = Patient resources on Propionic acidemia • Discussion groups on Propionic acidemia • Patient Handouts on Propionic acidemia • Directions to Hospitals Treating Propionic acidemia • Risk calculators and risk factors for Propionic acidemia
| group13 = Healthcare Provider Resources on Propionic acidemia
| list13 =
Symptoms of Propionic acidemia • Causes & Risk Factors for Propionic acidemia • Diagnostic studies for Propionic acidemia • Treatment of Propionic acidemia
| group14 = Continuing Medical Education (CME) Programs on Propionic acidemia | list14 = CME Programs on Propionic acidemia
| group15 = International Resources on Propionic acidemia | list15 = Propionic acidemia en Espanol • Propionic acidemia en Francais
| group16 = Business Resources on Propionic acidemia | list16 = Propionic acidemia in the Marketplace • Patents on Propionic acidemia
| group17 = Informatics Resources on Propionic acidemia | list17 = List of terms related to Propionic acidemia
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