The childhood
ceroid-lipofuscinoses are a group of autosomal recessively inherited disorders characterized by massive accumulation of autofluorescent lysosomal storage bodies in neurons as well as other cell types. The storage body accumulation is accompanied by severe degeneration of the central nervous system that results in
blindness, cognitive and psychomotor degeneration, and premature death. On the basis of pathologic and biochemical criteria, a
hereditary disease in the mnd mouse strain has been proposed as a model for certain types of human
ceroid-lipofuscinosis. Experimental evidence suggests that the storage body accumulation in humans with juvenile and late-infantile
ceroid-lipofuscinosis is linked to altered
carnitine biosynthesis. On the basis of the latter observation, a study was performed to determine whether dietary
carnitine supplements could slow the
disease progression in the mnd mouse model.
Carnitine supplementation begun at 4 weeks of age did not slow the
retinal degeneration that is characteristic of this disease. It did, however, significantly elevate brain
carnitine levels, slow the accumulation of autofluorescent storage bodies in brain neurons, and prolong the lifespans of the treated animals. These findings suggest that there is a link between
carnitine biosynthesis and the disease pathology and indicate that
carnitine supplementation may be beneficial in slowing the
disease progression in humans with certain types of hereditary
ceroid-lipofuscinosis.