introduction: methylmalonic acidemia (mma) is a metabolic disorder and especial nutritional support has an important role in improvement of growth and development in these patients. case presentation: a 3-month old female infant with known mma was admitted to emergency department of dr sheikh children hospital with primary diagnosis of pneumonia and sepsis .this patient was a full term baby; mm...

we encountered a patient with methylmalonic aciduria associated with skin lesions resembling acrodermatitis enteropathica. this child was being fed with a low-protein diet when the skin disorder developed. a deficiency in plasma levels isoleucine, was confirmed. supplementation of a high-caloric, protein-rich diet led to a prompt improvement of skin lesions. we assume that in our patient the sk...

Newborn screening (NBS) programs are effective measures of secondary prevention and have been successively extended. We aimed to evaluate NBS for methylmalonic acidurias, propionic acidemia, homocystinuria, remethylation disorders neonatal vitamin B12 deficiency, report on the identification cofactor-responsive disease variants. This evaluation previously established combined multiple-tier algo...

Methylmalonic acidemia (MMA) is widely considered as an autosomal recessive metabolic disorder that results in accumulation of high levels of methylmalonic acid and eventually brain damage. This study aims to investigate the effects of methylmalonic acid on neurons and analyze various gene expression profiles in rat cortical neurons treated with methylmalonic acid in order to understand the eff...

We report a method for rapid prenatal detection of methylmalonic acidemia, consisting of measuring methylmalonly-CoA mutase (EC 5.4.99.2) activity in non-cultured amniotic cells and measuring the concentration of methylmalonate in the amniotic fluid. Immediate stabilization of the mutase activity in the non-cultured amniotic cell by its coenzyme adenosycobalamin, and use of methylmalonyl-CoA wi...

Dear Editor, Methylmalonic acidemia, one of the organic acidemias, is associated with a variety of clinical presentations ranging from very sick newborn infants to asymptomatic adults, regardless of the nature of the enzymatic defect or the biochemical abnormalities. A 6-year-old boy with a past history of methylmalonic acidemia presented to the emergency room with a one-week history of inflamm...