Term
| Mental retardation, hepatomegaly, skeletal abnormalities. |
|
Definition
Generalized gangliosidosis
(beta-galactosidase) |
|
|
Term
| Mental retardation, blindness, hepatosplenomegaly, death in infancy |
|
Definition
| Tay-Sachs (Hexosaminidase) |
|
|
Term
Mental retardation, hepatomegaly & skeletal abnormalities (infant).
Adults- no MR |
|
Definition
| Gaucher's (beta-glucosidase) |
|
|
Term
|
Definition
| Fabry's (alpha-galactosidase) |
|
|
Term
| Mental retardation, absent myelin |
|
Definition
| Krabbe's (beta-galactosidase) |
|
|
Term
| Demyelination, mental deterioration |
|
Definition
| Metachromatic leukodystrophy (arylsulfatase) |
|
|
Term
| Hepatosplenomegaly, mental retardation, early death |
|
Definition
| Neimann-Pick (Sphingomyelinase) |
|
|
Term
| Hoarse voice, dermatitis, mental retardation, early death |
|
Definition
|
|
Term
| Mental retardation, blindness, hepatosplenomegaly, death in infancy w/ fast progression of disease |
|
Definition
| Sandoff's (Hexosaminidase A & B) |
|
|
Term
| beta-galactosidase (buildup of GM1 ganglioside) |
|
Definition
| Generalized gangliosidosis |
|
|
Term
| Hexosaminidase A (build-up of GM2 ganglioside) |
|
Definition
|
|
Term
| beta-glucosidase (buildup of glucocerebroside) |
|
Definition
|
|
Term
| alpha-galactosidase (buildup of ceramide trihexoside) |
|
Definition
|
|
Term
| beta-galactosidase (buildup of galactocerebroside) |
|
Definition
|
|
Term
| arylsulfatase A (buildup of sulfatide) |
|
Definition
| Metachromatic leukodystrophy |
|
|
Term
| Sphingomyelinase (buildup of sphingomyelin) |
|
Definition
|
|
Term
| Ceramidase (buildup of ceramide) |
|
Definition
|
|
Term
| Hexosaminidase (buildup of Globoside) |
|
Definition
|
|
