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Propionic Acidemia

Prevalence: 1/100000

metabolic

Official·OMIM:606054 Official·ORPHA35

Propionyl-CoA carboxylase deficiency due to PCCA/PCCB gene mutations.

Associated Genes

PCCAPropionyl-CoA Carboxylase Subunit Alpha

Chromosome 13Autosomal Recessive