Propionic Acidemia
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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
Referral may be required
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 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
Dr. Oleg A. Shchelochkov
Medical Genetics | Pediatrics
Elite in Propionic Acidemia
Dr. Oleg A. Shchelochkov
Medical Genetics | Pediatrics
Referral may be required
200 Hawkins Dr, 
Iowa City, IA 
319-356-4016
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
Dr. Susan A. Berry
Pediatrics | Medical Genetics
Distinguished in Propionic Acidemia
Dr. Susan A. Berry
Pediatrics | Medical Genetics
Referral may be required

M Health Fairview Explorer Pediatric Specialty Clinic

12th Flr, East Bld 2450 Riverside Ave, 
Minneapolis, MN 
612-365-6777
Languages Spoken:
English
See accepted insurances
Accepting New Patients
Offers Telehealth

Susan Berry is a Pediatrics specialist and a Medical Genetics provider practicing medicine in Minneapolis, Minnesota. Dr. Berry is rated as a Distinguished provider by MediFind in the treatment of Propionic Acidemia. She is also highly rated in 19 other conditions, according to our data. Her clinical expertise encompasses Propionic Acidemia, Argininosuccinic Aciduria, 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency, and Alkaptonuria. Dr. Berry is board certified in Clinical Genetics And Genomics: American Board Of Medical Genetics And Genomics, 1984 and Pediatrics: American Board Of Pediatrics, 1983. Dr. Berry is currently accepting new patients.

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What are the latest Propionic Acidemia Clinical Trials?
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: September 08, 2026

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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Phase 1 Study of Intravenous Administration of a Serotype rh.10 Replication Deficient Adeno-associated Virus Gene Transfer Vector Expressing the Human Propionyl-CoA Carboxylase cDNA (AAVrh10-PCCA) to Individuals With Propionic Acidemia
Phase 1 Study of Intravenous Administration of a Serotype rh.10 Replication Deficient Adeno-associated Virus Gene Transfer Vector Expressing the Human Propionyl-CoA Carboxylase cDNA (AAVrh10-PCCA) to Individuals With Propionic Acidemia
Enrollment Status: Recruiting
Publish Date: August 21, 2026
Intervention Type: Drug
Study Phase: Phase 1

Summary: Propionic acidemia is a genetic metabolic disorder characterized by metabolic acidosis, ketosis, vomiting, lethargy, cognitive impairment, and risk of death. It results from loss of function of the mitochondrial enzyme propionyl-CoA carboxylase and can be due to disease-causing variants in the PCCA gene, leading to accumulation of propionyl-CoA and its toxic metabolites. The purpose of this trial ...

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Who are the sources who wrote this article ?

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