Pyruvate dehydrogenase E3 binding protein (protein X) deficiency


Pyruvate dehydrogenase E3 binding protein (protein X) deficiency


Brown RM; Head RA; Morris AA; Raiman JA; Walter JH; Whitehouse WP; Brown GK


Developmental Medicine And Child Neurology




Child; Female; Humans; Male; Severity of Illness Index; Preschool; infant; Q3 Literature Search; DNA Mutational Analysis; Protein Subunits/deficiency/genetics; Pyruvate Dehydrogenase Complex Deficiency Disease/diagnosis/genetics/metabolism; Pyruvate Dehydrogenase Complex/genetics/metabolism


Pyruvate dehydrogenase (PDH) deficiency is a major cause of neurological dysfunction and lactic acidosis in infancy and early childhood. The great majority of cases (>80%) result from mutations in the X-linked gene for the E1alpha subunit of the complex (PDHA1). Mutations in the genes for the other subunits have all been described, but only dihydrolipoamide dehydrogenase (E3) and E3 binding protein (E3BP) defects contribute significantly to the total number of patients with PDH deficiency. Although previously considered rare, with only 13 reported cases, we have found that mutations in PDX1, the gene for the E3 binding protein, are in fact relatively common. Clinical, biochemical, and genetic features of six new patients (four males, two females; age range 15mo-6y) with mutations in this gene are compared with previously reported cases. All patients with E3BP deficiency identified to date have mutations which completely prevent synthesis of the protein product. However, they are generally less severely affected than patients with PDHA1 mutations, although there is considerable overlap in clinical and neuroradiological features.


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Brown RM; Head RA; Morris AA; Raiman JA; Walter JH; Whitehouse WP; Brown GK, “Pyruvate dehydrogenase E3 binding protein (protein X) deficiency,” Pediatric Palliative Care Library, accessed September 27, 2023,