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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.

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Sub-types

PCCA-related propionic acidemia (0) PCCB-related propionic acidemia (0)

Broader categories

Disease (680) Metabolic disease (233) Hereditary disease (176) Inborn errors of metabolism (45) Human disease (14) Inborn organic aciduria (5) Inborn disorder of amino acid metabolism (4) Disease of genetic or genomic mechanism (2) Amino acid metabolism disease (1) Classic organic aciduria (0)

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

Newborn screening study aims to catch rare diseases at birth

Diagnosis Ongoing

This study offers voluntary screening for newborns in North Carolina to detect a wide range of rare health conditions early. Using a small blood sample already collected at birth, the program tests for dozens of disorders, including spinal muscular atrophy, cystic fibrosis, and m…

Sponsor: RTI International • Aim: Diagnosis

Last updated Jul 03, 2026 00:00 UTC