CPT2 and Bartter disease type 4A: Mutations in BSND can cause either autosomal recessive sensorineural deafness with only mild renal problems or Bartter syndrome type 4a (OMIM:602522).[12] Deficiency of C8A and C8B causes recurrent Neisseria infections, predominantly with meningococcus infection of rare serotypes which is not present in our patient.[13] Interestingly, some of the genes are known to be involved in fatty acid oxidation and metabolism including CPT2; LRP8; PCSK9; and DHCR24, whose deletion results in abnormal lipid metabolism.