Methylmalonic acidemia
( MMA )Methylmalonic acidemia , also called methylmalonic acidurias is an autosomal recessive metabolic disorder that disrupts normal amino acid metabolism.
It is a classical type of organic acidemia.
The result of this condition is the inability to properly digest specific fats and proteins, which in turn leads to a buildup of a toxic level of methylmalonic acid in the blood.
Methylmalonic Acidemia (MMA )stems from several genotypes all forms of the disorder usually diagnosed in the early neonatal period, presenting progressive encephalopathy, and secondary hyperammonemia.
The disorder can result in death if undiagnosed or left untreated.
It is estimated that this disorder has a frequency of 1 in 48,000 births, though the high mortality rate in diagnosed cases make exact determination difficult.
Methylmalonic Acidemias (MMA) are found with an equal frequency across ethnic boundaries.
The amino acids that MMA watch for are Isoleucine, Valine, Methonine,and Threonine
Propionic acidemia
Propionic acidemia, also known as propionic aciduria or propionyl-CoA carboxylase deficiency (PCC deficiency) is a rare autosomal recessive metabolic disorder, classified as a branched-chain organic acidemia.
The disorder presents in the early neonatal period with poor feeding, vomiting, lethargy, and lack of muscle tone.
Without treatment, death can occur quickly, due to secondary hyperammonemia, infection, cardiomyopathy, or brain damage.
The amino acids that MMA watch for are Isoleucine, Valine, Methonine,and Threonine
