Methylmalonic acidemia (MMA) is an inborn error of intermediary metabolism that may present in the early neonatal period with progressive encephalopathy and death due to a secondary hyperammonemia. Jump to: navigation, search Santorio Santorio (1561-1636) in his steelyard balance, from Ars de statica medecina, first published 1614 Metabolism (from μεταβολισμος (metabolismos), the Greek word for change, or overthrow (Etymonline)), is the biochemical modification of chemical compounds in living organisms and cells. ... A human infant The word Infant derives from the Latin in-fans, meaning unable to speak. ... Encephalopathy is a container term for various conditions affecting the brain. ... Hyperammonemia is a metabolic disturbance characterised by an excess of ammonia in the blood. ...
Methylmalonic acidemia does not always result in death, if it able to be diagnosed at an early age.
Methylmalonic acidemia is an inherited disorder in which the body is unable to process certain proteins and fats (lipids) properly. Methylmalonic acidemia is a disorder of amino acid metabolism, involving a defect in the conversion of methylmalonyl-coenzyme A (CoA) to succinyl-CoA.
The methylmalonicacidemias are organic acidemias caused by an enzymatic defect in the metabolism of four amino acids (methionine, threonine, isoleucine and valine).
MethylmalonicAcidemias can usually be diagnosed before birth (prenatally) by measuring the concentration of methylmalonic acid in amniotic fluid or activity of the deficient enzyme in fluid or tissue samples obtained from the fetus or uterus during pregnancy (amniocentesis or chorionic villus sampling [CVS]).
Methylmalonicacidemia is one of the disorders in which the investigators are interested, and they are recruiting participants.
Methylmalonicacidemia is one of the most studied metabolic defects, having been first reported in 1967.
The picture of methymalonic acidemia as recurrent vomiting, dehydration, respiratory distress, muscle hypotonia, and lethargy that can lead to coma and death is often seen in the first week of life.
Prenatal diagnosis is possible by measuring methylmalonic acid in amniotic fluid or maternal urine, and by enzyme activity studies in cultured amniocytes.
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