Methylmalonic and propionic acidemia (MMA/PA) are inborn errors of metabolism
characterized by accumulation of propionic acid and/or methylmalonic acid due to deficiency …

Over the last decades, advances in clinical care for patients suffering from propionic
acidemia (PA) and isolated methylmalonic acidemia (MMA) have resulted in improved …

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

Methylmalonic and propionic aciduria (PA) are the most frequent forms of branched‐chain
organic acidurias. These autosomal recessive disorders result from deficient activity of …

Mitochondrial dysfunction and oxidative stress have been implicated in the pathogenesis of
a number of diseases and conditions. Oxidative stress occurs once the antioxidant defenses …

Background Propionic acidemia is an inherited disorder caused by deficiency of propionyl-
CoA carboxylase. Although it is one of the most frequent organic acidurias, information on …

Propionic acidemia is an organic acidemia that can lead to metabolic acidosis, coma and
death, if not treated appropriately in the acute setting. Recent advancements in treatment …

Mitochondrial dysfunction during acute metabolic crises is considered an important
pathomechanism in inherited disorders of propionate metabolism, ie propionic and …

Branched chain organic acidurias are a group of disorders that result from an abnormality of
specific enzymes involving the catabolism of branched chain amino acids (leucine …

Mitochondria—the intracellular powerhouse in which nutrients are converted into energy in
the form of ATP or heat—are highly dynamic, double-membraned organelles that harness a …