Propionic acidemia

MONDO:0011628

An organic aciduria caused by the deficient activity of the propionyl Coenzyme A carboxylase and is characterized by life threatening episodes of metabolic decompensation, neurological dysfunction and that may be complicated by cardiomyopathy.

Also known as: GLYCINEMIA, ketotic, ketotic hyperglycinemia, propionic acidemia, propionic aciduria, propionyl-CoA carboxylase deficiency, Propionicacidemia, prop

8 clinical trials for this condition and its sub-types, 8 tagged with Propionic acidemia itself.

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Where it sits in the disease tree

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Part of

↑ Classic organic aciduria (20)

Sub-types of Propionic acidemia

PCCA-related propionic acidemia 0 trials
PCCB-related propionic acidemia 0 trials

Including sub-types (8) Tagged with Propionic acidemia (8)

Trials to join now! 6 Not yet finished but already full! 1 Completed 1

Medical records reveal clues to rare genetic disease in amish and mennonite populations

Knowledge-focused Completed

This study looked back at the medical records of 38 people who have a specific genetic form of propionic acidemia, a rare metabolic disorder. The goal was to describe how the condition progresses over time, especially heart problems, and to create a better plan for preventive car…

Sponsor: University of Pittsburgh • Aim: Knowledge-focused

Last updated Jun 27, 2026 09:00 UTC

Propionic acidemia

Where it sits in the disease tree

Medical records reveal clues to rare genetic disease in amish and mennonite populations