Propionyl-CoA Carboxylase and Methylmalonyl-CoA Mutase

Defciencies
• VOMIT=Valine, Odd chain fatty acids, Methionine, Isoleucine,
Threonine
• VOMIT are metabolized through the propionic acid pathway.
Deficiency in those two enymes causes
• Findings: poor feeding, vomiting, hypotonia, anion gap,
metabolic acidosis (Ketoacidosis), hepatomegaly, seizures.

Valine, methionine, isoleucine, and threonine are all metabolized through the
propionic acid pathway (also used for odd-carbon fatty acids). Defciency of
either enzyme results in neonatal ketoacidosis from failure to metabolize
ketoacids produced from these 4 amino acids. Te defciencies may be

• Methylmalonyl CoA mutase deficiency:

o involves an accumulation of
• Methylmalonic acid

• Propionyl CoA carboxylase deficiency:

o involves an accumulation of
▪ Propionic acid
▪ Methyl citrate
▪ Hydroxy-propionic acid