GM1-Gangliosidosis

Abstract

IN 1964, Landing et al¹established "familial neurovisceral lipidosis" as a clinicopathological entity. The same disease has also been called generalized gangliosidosis,^2-7late infantile systemic lipidosis,^8-11G_M1-gangliosidosis,^3,12-18familial infantile amaurotic idiocy with visceral involvement,^19,20biochemically special form of infantile amaurotic idiocy,^21,22and Landing disease.^5,14,17,23The disease is characterized by generalized accumulation of a monosialoganglioside, G_M1(ganglioside nomenclature of Svennerholm²⁴), and visceral accumulation of keraton sulfate-like mucopolysaccharide.^12,18Enzymatically, deficiency of β-galactosidase has been demonstrated in various organs.^{4,5,7,14,16-18,23,25,26} From the clinical viewpoint, there appear to be two subtypes.¹⁰Patients in the infantile age category often exhibit abnormal facies, full forehead, and radiologically detectable bony changes reminiscent of Hurler's syndrome. On the other hand, some older patients in the "late infantile" age group show few or no clinical or radiologie signs of Hurler's syndrome. The present study was