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

Propionyl-CoA carboxylase (PCC) is the enzyme which catalyzes the carboxylation of
propionyl-CoA to methylmalonyl-CoA and is encoded by the genes PCCA and PCCB to form …

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/aciduria (PA) is an ultra-rare, life-threatening, inherited metabolic
disorder caused by deficiency of the mitochondrial enzyme, propionyl-CoA carboxylase …

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 …

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 …

OBJECTIVE: To evauluate the relationship between propionic acidemia (PA) and
cardiomyopathy. STUDY DESIGN: We retrospectively compared clinical and metabolic …

Propionic acidemia (PA) is one of the most frequent organic acidurias, but information on the
outcome of individuals with PA is rather limited. We present data of 49 patients with PA …

Mutations in the PCCA or PCCB genes, encoding both subunits of propionyl-CoA
carboxylase, result in propionic acidemia, a life-threatening inborn error of metabolism with …

Pseudoexons are nonfunctional intronic sequences that can be activated by deep-intronic
sequence variation. Activation increases pseudoexon inclusion in mRNA and interferes with …