Two Patients with Clinically Distinct Manifestation of Pyruvate Dehydrogenase Deficiency Due to Mutations in PDHA1 Gene

Abstract

The aim fo this study was to describe distinct course of the disease in two boys with mutations in PDHA1 gene and illustrate the possible obstacles in measurement of PDHc activity. Clinical data and metabolic profiles were collected and evaluated.

PDHc and E1alpha-subunit activities were measured using radiometric assay. Subunits od PDHc were detected by Western blot.

PDHA1 gene was analysed by direct sequencing.

Keywords

• Pyruvate dehydrogenase
• E1alpha-subunit
• PDHA1 gene
• Mutation c.857C>T, c.367C>T