The inherited forms of methylmalonic acidemia cause defects in the metabolic pathway where methylmalonyl-coenzyme A ( CoA ) is converted into succinyl-CoA by the enzyme methylmalonyl-CoA mutase.
42.
When one of these enzymes is defective or missing, partially broken-down nutrients accumulate in the cells and damage them, causing the signs and symptoms of glutaric acidemia type II.
43.
A side effect of excess methylmalonyl-CoA is an interruption of the enzymes responsible for other transformations earlier in the metabolism of propionyl-CoA, leading to propanoic acidemia as well.
44.
Pipecolic acidemia can also be an associated component of Refsum disease with increased pipecolic acidemia ( RDPA ), as well as other peroxisomal disorders, including both adult Refsum disease, and Zellweger syndrome.
45.
Pipecolic acidemia can also be an associated component of Refsum disease with increased pipecolic acidemia ( RDPA ), as well as other peroxisomal disorders, including both adult Refsum disease, and Zellweger syndrome.
46.
Ironically, Susan Millett said, blood from Maine newborns is sent for testing to Massachusetts, where the test in question _ for a disease called proprionic acidemia _ is part of the mandatory set.
47.
She said her first child, a daughter, was only 2 1 / 2-weeks old when she began vomiting and died 48 hours later of a rare disorder called melthylmalonic acidemia, or MMA.
48.
In particular, individuals with conditions that cause elevated levels of lactic acid in the blood, such as lactic acidemia, are likely to have elevated proline levels, because lactic acid inhibits the breakdown of proline.
49.
Many of the IEMs that are classified as " organic acidemia ", in which organic acids accumulate in the urine of newborns with these disorders, are easily and accurately picked up by GC-MS ..
50.
Vitamin B 12 is also needed for the conversion of methylmalonyl-CoA to Succinyl-CoA . Mutations leading to defects in vitamin B 12 metabolism or in its transport frequently result in the development of methylmalonic acidemia.
