Management guidelines should identify necessary screening for patients with methylmalonic
acidemia and propionic acidemia, and improve anticipatory management of progressive end …

Over the last decade, pioneering liver-directed gene therapy trials for haemophilia B have
achieved sustained clinical improvement after a single systemic injection of adeno …

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

Propionic acidemia (PA) and methylmalonic acidemia (MMA) comprise the most common
organic acidemias and account for profound morbidity in affected individuals. Although liver …

Background Organic acidemias, especially propionic acidemia (PA) and methylmalonic
acidemia (MMA), may manifest clinically within the first few hours to days of life. The classic …

Introduction Liver transplantation is recognised as a treatment option for patients with
propionic acidemia (PA) and those with methylmalonic acidemia (MMA) without renal …

Organic acidurias (OADs) comprise a biochemically defined group of inherited metabolic
diseases. Increasing awareness, reliable diagnostic workup, newborn screening programs …

Background Most patients with isolated methylmalonic acidemia (MMA)/propionic acidemia
(PA) presenting during the neonatal period with acute metabolic distress are at risk for death …

Organ transplantation is discussed in methylmalonic aciduria (MMA) for renal failure, and
poor quality of life and neurological outcome. We retrospectively evaluated 23 French MMA …

Ornithine transcarbamylase deficiency (OTCD) is the most common urea cycle disorder with
high unmet needs, as current dietary and medical treatments may not be sufficient to prevent …