Oneliner_1028

OneLiner

Deficiency of propionyl-coA carboxylase (B7/biotin dependent) characteristic of propionic acidemia -> a seizure has elevated levels of odd-chain fatty acids, and increased anion gap, suggestive of a disorder affecting fatty acid metabolism. Undetectable levels of methylmalonic acid and elevated levels of propionyl coA. Propionic acidemia is an autosomal recessive disorder of metabolism of odd chain fatty acids and certain amino acids (methionine, valine, isoleucine, and threonine). These substrates cannot be converted to succinyl CoA and inserted into the Krebs cycle. Clinical signs are apparent within the first few days of life and include vomiting, poor feeding, hypotonia, hepatomegaly, seizures, and increased anion gap with concomitant metabolic acidosis. Treatment consists of a low-protein diet that is free of methionine, valine, isoleucine and threonine.