Propionic Acidemia
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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
Medical Genetics
Elite in Propionic Acidemia
Medical Genetics
9000 Rockville Pike National Institutes Of Health, Building 49 Rm 4a18, 
Bethesda, MD 
Languages Spoken:
English

Charles Venditti is a Medical Genetics provider practicing medicine in Bethesda, Maryland. Dr. Venditti is rated as an Elite provider by MediFind in the treatment of Propionic Acidemia. He is also highly rated in 8 other conditions, according to our data. His clinical expertise encompasses Methylmalonic Acidemia, Propionic Acidemia, Homocystinuria, and Niemann-Pick Disease.

Elite in Propionic Acidemia
Medical Genetics | Pediatrics
Elite in Propionic Acidemia
Medical Genetics | Pediatrics
200 Hawkins Dr, 
Iowa City, IA 
Languages Spoken:
English

Oleg Shchelochkov is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Iowa City, Iowa. Dr. Shchelochkov is rated as an Elite provider by MediFind in the treatment of Propionic Acidemia. He is also highly rated in 7 other conditions, according to our data. His clinical expertise encompasses Propionic Acidemia, Argininosuccinic Aciduria, Methylmalonic Acidemia, and Urea Cycle Disorders (UCD).

 
 
 
 
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Distinguished in Propionic Acidemia
Medical Genetics
Distinguished in Propionic Acidemia
Medical Genetics

Rubenstein Child Health Building

Baltimore, MD 
Languages Spoken:
English, Spanish

Dr. Hilary Vernon is a Professor of Genetic Medicine and pediatrics at the Johns Hopkins University School of Medicine. She is also an attending physician at Kennedy Krieger Institute. Hilary Vernon has expertise in treating inborn errors of metabolism and mitochondrial disorders. She is the director of the Mitochondrial Care Center at The Johns Hopkins Hospital and the Barth Syndrome Interdisciplinary Clinic at the Kennedy Krieger Institute. Her research interests include understanding intermediary metabolism in Barth syndrome and in disorders of branch chain amino acid metabolism. Dr. Vernon also co-directs the Department of Genetic Medicine Clinical Trials Unit, and is the principal investigator on multiple clinical trials for rare diseases. Dr. Vernon received her medical degree and doctorate from Rutgers University, New Brunswick, New Jersey. She completed residencies in genetics and pediatrics at The Johns Hopkins University, and a fellowship in clinical laboratory biochemical genetics at The Johns Hopkins University. Dr. Vernon was recognized with the 2010 Francis F. Schwentker Award for Excellence in Research at Johns Hopkins University and the 2011 James B. Sidbury Jr. Fellowship in Biochemical Genetics at Johns Hopkins University. Dr. Vernon is rated as a Distinguished provider by MediFind in the treatment of Propionic Acidemia. She is also highly rated in 12 other conditions, according to our data. Her clinical expertise encompasses Methylmalonic Acidemia, Propionic Acidemia, Infantile Neutropenia, and Progressive External Ophthalmoplegia. Dr. Vernon is board certified in American Board Of Medical Genetics And Genomics and American Board Of Pediatrics.

What are the latest Propionic Acidemia Clinical Trials?
The Natural History, Physiology, Microbiome and Biochemistry Studies of Propionic Acidemia

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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A Phase 1/2, Global, Open-Label, Extension Study to Evaluate the Long-Term Safety and Clinical Activity of mRNA-3927 in Participants Previously Enrolled in the mRNA-3927-P101 Study

Summary: The main purpose of this study is to evaluate the long-term safety of mRNA-3927 administered to participants with propionic acidemia (PA) who have previously participated in Study mRNA-3927-P101 (NCT04159103).

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