Propionic Acidemia Overview

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Learn About Propionic Acidemia

What is the definition of Propionic Acidemia?
Propionic acidemia is an inherited condition in which the body can't breakdown certain parts of proteins and fats. This leads to a build-up of toxic substances and to bouts of serious illness called decompensation events or metabolic crises. Symptoms of a decompensation event include poor feeding, vomiting, weak muscle tone (hypotonia), and lack of energy (lethargy). Without early diagnosis and treatment, these symptoms may lead to more serious medical problems, including heart abnormalities, seizures, intellectual disability, coma, and possibly death. Propionic acidemia is caused by changes in the PCCA and PCCB genes and is inherited in an autosomal recessive pattern. Diagnosis is based on the symptoms, clinical exam, blood and urine testing, and may be confirmed by the results of genetic testing.
What are the alternative names for Propionic Acidemia?
  • Propionic acidemia
  • Glycinemia, ketotic
  • Hyperglycinemia with ketoacidosis and leukopenia
  • Ketotic glycinemia
  • Ketotic hyperglycinemia
  • PCC deficiency
  • PROP
  • Propionicacidemia
  • Propionyl-CoA carboxylase deficiency
Who are the top Propionic Acidemia Local Doctors?
Elite in Propionic Acidemia
Dr. Charles P. Venditti
Medical Genetics
Elite in Propionic Acidemia
Dr. Charles P. Venditti
Medical Genetics
9000 Rockville Pike National Institutes Of Health, Building 49 Rm 4a18, 
Bethesda, MD 
301-496-6213
Languages Spoken:
English

Charles Venditti is a Medical Genetics provider in Bethesda, Maryland. Dr. Venditti and is rated as an Elite provider by MediFind in the treatment of Propionic Acidemia. His top areas of expertise are Methylmalonic Acidemia, Propionic Acidemia, Homocystinuria, and Niemann-Pick Disease.

Elite in Propionic Acidemia
Dr. Oleg A. Shchelochkov
Medical Genetics | Pediatrics
Elite in Propionic Acidemia
Dr. Oleg A. Shchelochkov
Medical Genetics | Pediatrics
200 Hawkins Dr, 
Iowa City, IA 
319-356-4016
Languages Spoken:
English

Oleg Shchelochkov is a Medical Genetics specialist and a Pediatrics provider in Iowa City, Iowa. Dr. Shchelochkov and is rated as an Elite provider by MediFind in the treatment of Propionic Acidemia. His top areas of expertise are Propionic Acidemia, Argininosuccinic Aciduria, Methylmalonic Acidemia, and Urea Cycle Disorders (UCD).

 
 
 
 
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Distinguished in Propionic Acidemia
Eva Richard
Distinguished in Propionic Acidemia
Eva Richard
El Pardo, MD, ES 

Eva Richard practices in El Pardo, Spain. Richard and is rated as a Distinguished expert by MediFind in the treatment of Propionic Acidemia. Her top areas of expertise are Propionic Acidemia, Glycine Encephalopathy, Homocystinuria, and Methylmalonic Acidemia.

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What are the latest Propionic Acidemia Clinical Trials?
A Non-Interventional Post-Authorization Safety Study (PASS) of Carbaglu® for the Treatment of Hyperammonemia Due to Methylmalonic Acidemia (MMA) and Propionic Acidemia (PA) in Adult and Pediatric Patient Populations
A Non-Interventional Post-Authorization Safety Study (PASS) of Carbaglu® for the Treatment of Hyperammonemia Due to Methylmalonic Acidemia (MMA) and Propionic Acidemia (PA) in Adult and Pediatric Patient Populations
Enrollment Status: Recruiting
Publish Date: April 15, 2025
Intervention Type: Drug

Summary: To obtain short-term and long-term clinical safety information, in pediatric and adult patients with PA and MMA treated with Carbaglu®.

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The Natural History, Physiology, Microbiome and Biochemistry Studies of Propionic Acidemia
The Natural History, Physiology, Microbiome and Biochemistry Studies of Propionic Acidemia
Enrollment Status: Recruiting
Publish Date: April 11, 2025

Background: People s bodies need to break down food into the chemicals. These chemicals are used for energy and growth. Some people cannot process all chemicals very well. Too much of some chemicals can cause diseases. One of these diseases is called propionic acidemia (PA). People with PA can have problems with growth, learning heart, abdomen, and other organs. Researchers want to better understand how these...

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Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center