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?
Experienced in Propionic Acidemia
Dr. Alejandro D. Iglesias
Medical Genetics | Pediatrics
Experienced in Propionic Acidemia
Dr. Alejandro D. Iglesias
Medical Genetics | Pediatrics

Trustees Of Columbia University In The City Of New York

161 Fort Washington Ave, 
New York, NY 
 (9.4 mi)
212-305-3870
Languages Spoken:
English
See accepted insurances
Offers Telehealth

Alejandro Iglesias is a Medical Genetics specialist and a Pediatrics provider in New York, New York. Dr. Iglesias and is rated as an Experienced provider by MediFind in the treatment of Propionic Acidemia. His top areas of expertise are Krabbe Disease, Fetal Akinesia Sequence, Hypotonia, and Zellweger Syndrome.

Advanced in Propionic Acidemia
Dr. Michele J. Spencer-Manzon
Medical Genetics
Advanced in Propionic Acidemia
Dr. Michele J. Spencer-Manzon
Medical Genetics

Yale University

1 Long Wharf Dr, Suite 503, 
New Haven, CT 
 (68.8 mi)
203-764-9199
Experience:
21+ years
Languages Spoken:
English
See accepted insurances
Accepting New Patients
Offers Telehealth

Michele Spencer-Manzon is a Medical Genetics provider in New Haven, Connecticut. Dr. Spencer-Manzon has been practicing medicine for over 21 years and is rated as an Advanced provider by MediFind in the treatment of Propionic Acidemia. Her top areas of expertise are Tyrosinemia Type 1, Tyrosinemia Type 2, Tyrosinemia Type 3, and Maple Syrup Urine Disease. Dr. Spencer-Manzon is currently accepting new patients.

 
 
 
 
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Advanced in Propionic Acidemia
Dr. Marc P. Yudkoff
Medical Genetics | Pediatrics | Developmental and Behavioral Pediatrics
Advanced in Propionic Acidemia
Dr. Marc P. Yudkoff
Medical Genetics | Pediatrics | Developmental and Behavioral Pediatrics
3401 Civic Center Blvd, Children's Hospital Of Philadelphia - Metabolism, 
Philadelphia, PA 
 (81.9 mi)
215-590-3376
Languages Spoken:
English

Marc Yudkoff is a Medical Genetics specialist and a Pediatrics provider in Philadelphia, Pennsylvania. Dr. Yudkoff and is rated as an Advanced provider by MediFind in the treatment of Propionic Acidemia. His top areas of expertise are Urea Cycle Disorders (UCD), N-Acetylglutamate Synthase Deficiency, Maple Syrup Urine Disease, and Ornithine Translocase Deficiency.

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What are the latest Propionic Acidemia Clinical Trials?
Universal Genomic Newborn Screening in the Wallonia-Brussels Federation: Baby Detect
Universal Genomic Newborn Screening in the Wallonia-Brussels Federation: Baby Detect
Enrollment Status: Recruiting
Publish Date: February 12, 2025

Summary: Newborn screening (NBS) is a global initiative of systematic testing at birth to identify babies with pre-defined severe but treatable conditions. With a simple blood test, rare genetic conditions can be easily detected, and the early start of transformative treatment will help avoid severe disabilities and increase the quality of life. Baby Detect Project is an innovative NBS program using a pane...

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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: December 27, 2024

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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Who are the sources who wrote this article ?

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