Term
|
Definition
| X-linked recessive; deficiency of a-Galactosidase A -> accumulation of Ceramide Trihexoside -> Renal Failure |
|
|
Term
|
Definition
| AR; absence of b-Galactosidase -> accumulation of Galactocerebroside in the Brain -> Optic atrophy, Spasticity, Early Death |
|
|
Term
|
Definition
| AR; deficiency of b-Glucocerebrosidase -> Glucocerebroside accumulation in Brain, Liver, Spleen, BM -> usually normal lifespan; Ass'd w/ Ashkenazic Jews |
|
|
Term
|
Definition
| AR; deficiency of Sphingomyelinase -> accumulation of Sphingomyelin and Cholesterol in RE and Parenchymal cells/tissues -> Early Death; "don't PICK your nose with your SPHINGer" |
|
|
Term
|
Definition
| AR; absence of Hexosaminidase A -> GM2 Ganglioside accumulation, cherry-red spots on macula -> Early Death; ass'd w/ Ashkenazic Jews; "Tay-saX lacks heXosaminidase" |
|
|
Term
| Metachromatic Leukodystrophy |
|
Definition
| AR; deficiency of Arylsulfatase A -> accumulation of Sulfatide in Brain, Kidney, Liver, Peripheral Nerves |
|
|
Term
|
Definition
| AR; deficiency of a-L-Iduronidase -> Corneal clouding, Mental retardation |
|
|
Term
|
Definition
| X-linked recessive ("Hunters aim for the X); deficiency of Iduronate Sulfatase -> mild mental retardation, no corneal clouding |
|
|
