Mutations in the genes encoding lamin A (LMNA), cell death-inducing dffa-like effector C (CIDEC) and perilipin 1A (PLIN1A) are associated with PLD, whereas mutations in genes encoding 1-acylglycerol-3-phosphate-O-acyltransferase 2 (AGPAT2), caveolin 1 (CAV1) and polymerase-I-and-transcript release factor (PTRF), as well as in the Berardinelli–Seip congenital lipodystrophy 2 gene (BSCL2), have been found in patients with congenital GLD [15]. Here, BSCL2 is linked to Krabbe disease.