Globoid cell leukodystrophy is a generalized galactosylsphingosine (psychosine) storage disease.
Galactosylsphingosine (psychosine) in somatic organs from a patient with globoid cell leukodystrophy and from the twitcher mouse, an animal model of human globoid cell leukodystrophy was assayed. There was an abnormal accumulation of galactosylsphingosine as in nervous tissues, albeit the concentrations being lower than those in nervous tissues. Galactosylsphingosine accumulation in the kidney of the twitcher mouse increased with age. These findings indicate that globoid cell leukodystrophy is a generalized galactosylsphingosine storage disease.
D000367:Age Factors; D000818:Animals; D006801:Humans; D007668:Kidney / Q000378:metabolism; D007965:Leukodystrophy, Globoid Cell / Q000235:genetics / Q000378:metabolism*; D051379:Mice; D008818:Mice, Neurologic Mutants; D009420:Nervous System / Q000378:metabolism; D011609:Psychosine / Q000378:metabolism*; D013110:Sphingosine / Q000031:analogs & derivatives*; D014018:Tissue Distribution
D011609:Psychosine; D013110:Sphingosine