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Angewandte Chemie (International Ed English) (2014) 53(30):78437

A molecular genetic diagnosis of pyruvate dehydrogenase complex deficiency is established in a proband with supportive metabolic analyte findings and typical brain anomalies, by identifying a single pathogenic variant (or likely pathogenic variant) in an X-linked gene such as PDHA1 associated with pyruvate dehydrogenase complex deficiency (as heterozygous or hemizygous in a female or male, respectively) or biallelic pathogenic or likely pathogenic variants in other pyruvate dehydrogenase complex deficiency-associated genes by molecular genetic testing (Table 2)

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