TABLE 19-1
Characteristics of Glycosphingolipid Storage Disorders
Disorders
Major Lipids
Accumulated
Other Compounds
Affected
Enzyme or Activator
Protein Lacking*
Remarks
G
M 2
gangliosidosis, type II
Globoside and G
M 2
Hexosaminidases A and B
Same clinical picture as
(Tay-Sachs variant;
Sandhoff’s disease)
ganglioside
(© and ©)
GM
2
“activator
Tay-Sachs desease but
progresses more rapidly;
no racial predilection;
hepatosplenomegaly,
cardiomyopathy.
Fabry’s disease
(glycosphingolipid
lipidosis)
Gal-(4<-lct)-Lac-Cer
Gal-(4<—
1 a)-Gal-Cer
accumulates.
a-Galactosidase (©)
X-linked recessive; hemizygous
males have a characteristic
skin lesion usually lacking in
heterozygous females; pain in
the extremities; death usually
in the fourth decade results
from renal failure or cerebral
or cardiovascular disease.
Ceramide lactoside
lipidosis
Gal-(4<—
l/3)-Glc-Cer
Ceramide lactoside
/3-galactosidase (®)
Liver and spleen enlargement;
slowly progressive brain damage
neurological impairment.
Gaucher’s disease
Glc-Cer
G
M 3
ganglioside accumulates
/3-Glucocerebrosidase
Hepatosplenomegaly; frequently
(glucosyl ceramide
most frequently; other
(glucosylceramidase; ©)
fatal; no known treatment;
lipidosis; three types;
see text)
compounds occasionally.
Activator protein sap-C
occurrence of Gaucher’s cells
(reticuloendothelial cells that
contain accumulations of
erythrocyte-derived
glucocerebroside).
G
M 1
gangliosidosis (two
GM1- and desialo-
Keratan sulfate-related
GMi^-galactosidase (©)
Mental and motor deterioration;
types; see text)
GM1-gangliosides
polysaccharide accumulates.
accumulation of mucopoly-
saccharides is as significant
as accumulation of gangliosides;
invariably fatal; autosomal
recessive; blindness,
cherry red macula (30%);
hepatosplenomegaly;
vacuolated lymphocytes;
startle response to sound,
dysostosis multiplex.
