GM3(Hematoside) Sphingolipodystrophy

Abstract

To characterize further disorders involving storage of glycosphingolipids, we studied an infant who had poor physical and motor development, coarse facies, macroglossia, gingival hypertrophy, squat hands and feet, flexor contractures of the fingers, thickened, loose, hirsute skin, bilateral large inguinal hernias, an enlarged liver and spleen, and normal fundi. Shortly after birth the patient became limp and unresponsive, dying at 3 1/2 months of age. The accumulation of ganglioside GM₃ (hematoside) was established by quantitative lipid analysis of fresh-frozen post-mortem samples of brain and liver. Higher ganglioside homologues were completely absent. This unusual ganglioside pattern suggests that the defect in GM₃ (hematoside) sphingolipodystrophy is in ganglioside biosynthesis, in contrast to previously described sphingolipidoses, which are due to deficiencies of catabolic enzymes. (N Engl J Med 291:929–931, 1974)