3-Hydroxypropionate: Significance of -Oxidation of Propionate in Patients with Propionic Acidemia and Methylmalonic Acidemia

Optic neuropathy in methylmalonic acidemia and propionic acidemia.

BACKGROUND Methylmalonic acidemia (MMA) and propionic acidemia (PA) are rare hereditary disorders of protein metabolism, manifesting early in life with ketoacidosis and encephalopathy and often resulting in chronic complications. Optic neuropathy (ON) has been increasingly recognised in both conditions, mostly through isolated case reports or small cases series. We here report the clinical feat...

Methylmalonic acidemia

The authors provide an overview of the hereditary methylmalonic acidemias, a group of metabolic disorders with varied clinical presentations. This includes the most severe form of L-methylmalonyl-CoA mutase deficiency, termed mut(o) methylmalonic acidemia, which, together with the less severe deficiencies of L-methylmalonyl-CoA mutase, are the most common causes of methylmalonic acidemia. They ...

Methylmalonic Acidemia.

Methylmalonic Acidemia (MMA) is an inborn error of metabolism that results in accumulation of methylmalonic acid in blood and increased excretion in urine. The effects of MMA vary from mild to life threatening and it usually presents in early infancy. Affected infants can have vomiting, dehydration, hypotonia, developmental delay and failure to thrive. The emergency treatment of the newborn wit...

Association of Methylmalonic Acidemia and Erythema Nodosum

Isolation and identification of methylcitrate, a major metabolic product of propionate in patients with propionic acidemia.

The metabolic products of propionate metabolism in man were studied by determining the pattern of isotope in the urine following the intravenous injection of [lJ%]propionate. A major peak of radioactivity not present in control subjects was found in an organic acid in two patients with propionic acidemia and a patient with methylmalonic acidemia. This labeled compound was characterized as methy...