The spectrum of propionic acidemia (PA) ranges from neonatal onset to late-diagnosed
disease. Neonatal-onset PA, the most common form, is characterized by a healthy newborn …

Isolated methylmalonic acidaemia (MMA) and propionic acidaemia (PA) are rare inherited
metabolic diseases. Six years ago, a detailed evaluation of the available evidence on …

Propionic acidemia (PA), arising from PCCA or PCCB variants, manifests as life-threatening
cardiomyopathy and arrhythmias, with unclear pathophysiology. In this work, propionyl-CoA …

Propionic acidemia (PA) is an autosomal recessive metabolic disorder after gene encoding
propionyl-CoA carboxylase, Pcca or Pccb, is mutated. This genetic disorder could develop …

Organic acidurias, such as glutaric aciduria type 1 (GA1), methylmalonic (MMA), and
propionic aciduria (PA) are a prominent group of inherited metabolic diseases involving …

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

Propionic acidemia (PA) is a rare inherited metabolic disease due to inborn errors of
metabolism. PA results in the accumulation of abnormal organic acid metabolites in multiple …

України Клінічної настанови Guidelines for the diagnosis and management of
methylmalonic acidaemia and propionic acidaemia: First revision. 2021, що була обрана …

Isolated methylmalonic acidaemia (MMA) and propionic acidaemia (PA) are rare inherited
metabolic diseases. Six years ago, a detailed evaluation of the available evidence on …

Propionic acidemia: a rare cause of dilated cardiomyopathy and long QT syndrome Propionic
acidemia: a rare cause of dilated cardiomyopathy and long QT syndrome Rev Esp Cardiol …