Methylmalonic Acidemia – Cause of Recurrent Neonatal Death and Its Social Implications

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

Early Liver Transplantation for Neonatal-Onset Methylmalonic Acidemia.

With conventional dietary treatment, the clinical course of methylmalonic acidemia due to cobalamin-unresponsive methylmalonyl-CoA mutase (MCM) deficiency is characterized by the persistent risk of recurrent life-threatening decompensation episodes with metabolic acidosis, hyperammonemia, and coma. Liver transplant has been proposed as an alternative treatment and anecdotally attempted in the l...

Growth hormone therapy in neonatal patients with methylmalonic acidemia.

BACKGROUND Information regarding growth hormone (GH) therapy in neonatal patients with methylmalonic academia (MMA) is lacking. We present our experience with GH therapy in neonatal patients with MMA. METHODS Four neonatal patients with mut 0 type MMA were identified through newborn screening for elevated propionylcarnitine (C3) levels. GH therapy (0.6 IU/kg/week, subcutaneously) was prescrib...