E884 CMAJ| JULY 23, 2018| VoLUMe 190| IssUe 29 the implanted subcutaneous
cardioverter− defibrillator, to confirm that his QT dynamics were normal and to assess for …

CLINICAL VIGNETTE Propionic acidemia and a cardioverter‑defibrillator 585 by the altered
energetic metabolism in cardiomyocytes. Other potential mechanisms include deficiency of …

Propionic acidaemia (PA) is an autosomal recessive disease that results from deficiency of
propionyl-CoA carboxylase (PCC). In the majority of reported cases, the phenotype includes …

Purpose Propionic acidemia (PA) is an organic acidemia caused by an inherited deficiency
of the enzyme Propionyl CoA carboxylase. Cardiac involvement as QTc interval …

Dilated cardiomyopathy is a rare and unrecognised complication of propionic acidosis. It
usually progresses to chronic cardiac failure with a poor prognosis. The authors report three …

Dilated cardiomyopathy is a rare complication in propionic acidaemia (PA). Underlying
pathophysiological mechanisms are poorly understood. We present a child of Pakistani …

Discussion Individuals afflicted may develop cardiomyopathy and long QTc. 5 Extracardiac
manifestations include pancreatitis, seizures, and other central nervous system defects. 2 …

Following the death of a patient with propionic acidaemia with a cardiomyopathy we
reviewed 19 patients with the same disorder for evidence of cardiomyopathy. Six patients …

Background Propionic acidaemia (PA) is an autosomal recessive disorder resulting from
deficiency of propionyl-CoA carboxylase, a mitochondrial enzyme that metabolizes …

The symptoms of propionic acidemia, an autosomal recessive disorder involving deficiency
of the enzyme propionyl‐coenzyme A carboxylase, are highly varied and may present at any …