Propionic acidemia

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Propionic acidemia
Propionic acid structure.png
Propionic acid
ICD-10 E71.1
ICD-9 270.3
OMIM 606054
DiseasesDB 29673 29904
eMedicine ped/1906 

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Propionic acidemia

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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.

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

Cost Effectiveness of Propionic acidemia

| group5 = Clinical Trials Involving Propionic acidemia | list5 = Ongoing Trials on Propionic acidemia at Clinical Trials.govTrial results on Propionic acidemiaClinical Trials on Propionic acidemia at Google


| group6 = Guidelines / Policies / Government Resources (FDA/CDC) Regarding Propionic acidemia | list6 = US National Guidelines Clearinghouse on Propionic acidemiaNICE Guidance on Propionic acidemiaNHS PRODIGY GuidanceFDA on Propionic acidemiaCDC 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 acidemiaAND (drug interactions)}} Drug interactions with Propionic acidemiaAND (side effects)}} Side effects of Propionic acidemiaAND (Allergy)}} Allergic reactions to Propionic acidemiaAND (overdose)}} Overdose information on Propionic acidemiaAND (carcinogenicity)}} Carcinogenicity information on Propionic acidemiaAND (pregnancy)}} Propionic acidemia in pregnancyAND (pharmacokinetics)}} Pharmacokinetics of Propionic acidemia


| group9 = Genetics, Pharmacogenomics, and Proteinomics of Propionic acidemia | list9 = AND (pharmacogenomics)}} Genetics of Propionic acidemiaAND (pharmacogenomics)}} Pharmacogenomics of Propionic acidemiaAND (proteomics)}} Proteomics of Propionic acidemia


| group10 = Newstories on Propionic acidemia | list10 = Propionic acidemia in the newsBe alerted to news on Propionic acidemiaNews 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 acidemiaDiscussion groups on Propionic acidemiaPatient Handouts on Propionic acidemiaDirections to Hospitals Treating Propionic acidemiaRisk calculators and risk factors for Propionic acidemia


| group13 = Healthcare Provider Resources on Propionic acidemia | list13 = Symptoms of Propionic acidemiaCauses & Risk Factors for Propionic acidemiaDiagnostic studies for Propionic acidemiaTreatment 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 EspanolPropionic acidemia en Francais

| group16 = Business Resources on Propionic acidemia | list16 = Propionic acidemia in the MarketplacePatents on Propionic acidemia

| group17 = Informatics Resources on Propionic acidemia | list17 = List of terms related to Propionic acidemia


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