2011). Unfortunately, our resources at the time of development did not allow the incorporation of this test onto the chip. Also, the molecular basis of Maple Syrup Urine Disease, BCKDHB gene, c.595_596delAG (Mroch et al. 2014), and a second Joubert‐like condition resulting from mutations in CSSP1(Shaheen et al. 2014) were recently reported and could now be added. Here, BCKDHB is linked to maple syrup urine disease.