Article
Potential relationship between genotype and clinical outcome in propionic acidaemia patients.
European journal of human genetics : EJHG - 1 Mar 2000
Pérez-Cerdá C, Merinero B, Rodríguez-Pombo P, Pérez B, Desviat L R, Muro S, Richard E, García M J, Gangoiti J, Ruiz Sala P, Sanz P, Briones P, Ribes A, Martínez-Pardo M, Campistol J, Pérez M, Lama R, Murga M L, Lema-Garrett T, Verdú A, Ugarte M
Abstract excerpt
Propionic acidaemia (PA) is an autosomal recessive disorder caused by mutations in either of the PCCA or PCCB genes which encode the alpha and beta subunits, respectively, of the mitochondrial enzyme propionyl-CoA carboxylase (PCC). In this work we have examined the biochemical findings and clinical outcome of 37 Spanish PA patients in relation to the mutations found in both PCCA and PCCB genes. We have detected...
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