|
DISORDER |
ENZYME DEFECTS |
STORAGE PRODUCT |
TISSUE
DIAGNOSIS |
|
GAUCHER
|
GLUCOCEREBROSIDASE |
GLUCOSYLCERAMIDE |
WBC, SPLEEN LIVER, MARROW, NEURONS |
|
GM2
GANGLIOSIDOSES TAY-SACHS SANDHOFF
AB VARIANT |
HEXOSAMINIDASE A HEXOSAMINIDASE B (AND A)
GM2 ACTIVATOR PROTEIN |
GM2
GANGLIOSIDE GM2
GANGLIOSIDE & OTHER GLYCOCONJUGATES
GM2
GANGLIOSIDE |
WBC, NEURONS WBC, NEURONS,LIVER,
MARROW
WBC,
NEURONS |
|
NIEMANN-PICK |
SPHINGOMYELINASES |
SPHINGOMYELIN
& CHOLESTEROL |
NEURONS, GLIA,SPLEEN, LIVER,MUSCLE, GI |
|
METACHROMATIC LEUKODYSTROPHY |
ARYL
SULFATASE A |
SULFATIDES |
NEURONS,
GLIA KIDNEY |
|
GM1 GANGLIOSIDOSIS |
b-GALACTOSIDASE |
GM1
GANGLIOSIDE & OTHER GLYCONES |
WBC, NEURONS,KIDNEY, LIVER,MARROW, GI |
|
KRABBE |
GALACTOCEREBROSIDASE |
GALACTOSYLCERAMIDE &
PSYCHOSINE |
NEURONS,
GLIA |
|
FABRY |
a-GALACTOSIDASE |
CERAMIDE
TRIHEXOSIDES |
SKIN, SPLEENMARROW,
LIVER, MUSCLE, KIDNEY |
|
FARBER |
CERAMIDASE |
CERAMIDE |
NEURONS, LIVER, GI,LYMPH NODES |
|
BATTEN |
UNKNOWN |
LIPOFUSCIN-LIKE
SUBSTANCES |
NEURONS, LIVER, MUSCLE, GI, WBC, PANCREAS, SWEAT
GLANDS,KIDNEY |