Methylmalonic<unk>  is caused by a defect in the vitamin B12-dependent enzyme methylmalonyl CoA mutase.<unk>  has an autosomal recessive<unk> ttern of inheritance. In healthy individuals, enzyme propionyl-CoA carboxylase converts propionyl-CoA to methylmalonyl-CoA. This is one of many steps in the process of converting certain amino acids and fats into energy. Individuals with<unk>  cannot perform this conversion because the enzyme propionyl-CoA carboxylase is nonfunctional. The essential amino acids valine, methionine, isoleucine, and threonine can not be converted and this leads to a buildup of propionyl-CoA. Instead of being converted to methylmalonyl-CoA, propionyl-CoA is then converted into<unk>  acid, which builds up in the bloodstream. This in turn causes an accumulation of dangerous acids and toxins, which can cause damage to the organs. In many cases,<unk>  can damage the brain, heart, kidney, liver, cause seizures and delays to normal development such as walking or talking. The<unk> tient may need to be hospitalized to prevent breakdown of proteins within the body. Dietary needs must be closely managed. Mutations in both copies of the PCCA or PCCB genes cause<unk> .Barry Lab - Vector and Virus Engineering. Gene therapy for<unk>  These genes contain instructions to form alpha- and beta-subunits of PCC, the enzyme called propionyl-CoA carboxylase. PCC is required for the normal breakdown of the essential amino acids valine, isoleucine, threonine, and methionine, as well as certain odd-chained fatty-acids. Mutations in the PCCA or PCCB genes disrupt the function of the enzyme, preventing these acids from being metabolized. As a result, propionyl-CoA,<unk>  acid, ketones, ammonia, and other toxic compounds accumulate in the blood, causing the signs and symptoms of<unk> . Hyperammonemia develops due to the inhibitory effects of propionyl-CoA on N-Acetylglutamate synthase, indirectly resulting in slowing of the urea cycle.
Propionic acidemia
Organic acidemia
Isovaleric acidemia
Sulfhemoglobinemia
Hyperammonemia
Pipecolic acidemia
Inert gas asphyxiation
Methemoglobinemia