Late-Onset Propionic Acidemia

is a frequent autosomal recessive disorder due to propionyl-CoA carboxylase deficiency. Clinical signs - which are close to those seen in methyl malonic acidemia - appear soon after birth and include ketoacidotic coma, hyperammonemia and convulsions. Onset may be later in childhood or adolescence with progressive psychomotor / intellectual impairment, hypotonia and ataxia, digestive disorders, and for some epsiodes of lethargy and coma. Apart from acute metabolic decompensation, the major complications are neurological disorders (central grey nuclei), cardiomyopathies, and acute pancreatitis. (Source: Orphanet)

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