Besides LS, one infant with a biallelic loss-of-function mutation in NDUFV1 is also compatible with the phenotype of LBSL (Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation), a rare condition characterized by progressive pyramidal, cerebellar, and dorsal column dysfunction (Borna et al., 2020). Here, NDUFV1 is linked to Leukoencephalopathy.