BCS1L and renal tubular acidosis: She underwent targeted next generation sequencing panel for renal tubular acidosis for five genes (ATP6VOA4, ATP6V1B1, CA2, SLC4A1, SLAC4A4) and 21 additional genes were added which were known to cause Fanconi syndrome (ALDOB, ATP7B, BCS1L, CLCN5, CTNS, EHHADH, FAH, G6PC, GALT, GATM, HNF1A, HNF4A, LRP2, NDUFAF6, OCRL, SLC2A2, SLC34A1, SLC3A1, SLC7A7, SLC7A9, VPS33B).