BCS1L and mitochondrial disease: Seventeen corresponded to genes known to cause CLA—PDHA1 and PDHX, related to pyruvate metabolism; PHKA2 related to glycogen storage diseases; ACAD9, BCS1L, DGUOK, COQ2, FOXRED1, FARS2, GFM1, MRPS22, PDSS1, TMEM70, TRMU and TSFM, all responsible for primary mitochondrial diseases; and DLD and SLC19A3 related to multiple mitochondrial enzyme complex deficiencies.