Novel Synonymous and Deep Intronic Variants Causing Primary and Secondary Pyruvate Dehydrogenase Complex Deficiency

Figure 1

Mitochondrial ATP production (MAPR) in skeletal muscle. MAPR for patients P1, P2, P3, and P5 in the presence of glutamate+malate, palmitoyl-L-carnitine+malate, and pyruvate+malate. Patient P5 was investigated on two occasions and was the only one investigated also using the substrate α-ketoglutarate. Activities are expressed in percentage of maximum mitochondrial ATP production obtained in the (a–c) presence of glutamate+succinate or a (d, e) mixture of pyruvate+palmitoyl-L-carnitine+α-ketoglutarate+malate. The biochemical investigations were performed over several decades, under which methods and instrumentation have undergone several alterations. Consequently, each muscle biopsy is compared to an age-matched reference material (green bars) specific for the time of the investigation. Error bars indicate reference range, taken as ±2SD in each reference group.

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