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. Ayesha Ahmad
Medical Genetics | Pediatrics
Distinguished in Propionic Acidemia
Dr. Ayesha Ahmad
Medical Genetics | Pediatrics
Referral may be required

C. S. Mott Children's Hospital

1540 E Hospital Dr, Floor 6 Reception C, 
Ann Arbor, MI 
734-764-0579
Languages Spoken:
English
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Ayesha Ahmad is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Ann Arbor, Michigan. Dr. Ahmad is rated as a Distinguished provider by MediFind in the treatment of Propionic Acidemia. She is also highly rated in 50 other conditions, according to our data. Her clinical expertise encompasses Pompe Disease, Propionic Acidemia, Von Gierke Disease, and Mucopolysaccharidosis Type 1 (MPS I, Hurler Syndrome). Dr. Ahmad is board certified in Clinical Biochemical Genetics and Clinical Genetics & Genomics.

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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: April 20, 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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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
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
Who is this study for: Patients with propionic acidemia
Enrollment Status: Recruiting
Publish Date: March 23, 2026
Intervention Type: Biological
Study Drug: mRNA-3927
Study Phase: Phase 1/Phase 2

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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Who are the sources who wrote this article ?

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