|
DISEASE
|
ENZYME
DEFICIENCY
|
INHERITANCE
|
LIPID
ACCUMULATING
|
CLINICAL
FEATURES
|
|
Tay-Sachs Disease
|
Hexosaminidase A
|
AR
|
GM2 gangliosides
|
Mental Retardation
Seizures Macrocephaly
Blindness
Hyperacusis
|
|
Sandhoff's Disease
|
Hexosaminidase A & B
|
AR
|
GM2 gangliosides
|
Mental Retardation
Seizures
Hepatosplenomegaly
Muscle weakness
|
|
Fabry's disease
|
α-Galactosidase
|
X-linked
|
Globotriaosyl-ceramide
|
Acralparesthesias
Cutaneous Angiokeratomas
Corneal Dystrophy
Cardiac,CNS & Renal
lesions
|
|
Metachromatic Leukodystrophy
|
Arylsulfatase A
|
AR
|
Cerebroside sulfates
|
Mental Retardation
Dementia
Psychosis in adults
Optic Atrophy
|
|
Krabbe's disease
|
β-Galactosidase a.k.a.
Galactosylceramidase
|
AR
|
Galactosylceramide
|
Mental Retardation
|
|
Gaucher's Disease
|
β-Glucosidase
|
AR
|
Glucosylceramide
|
Hepatosplenomegaly
Bone Marrow involvement
Peripheral Blood cytopenias
Bone lesions
|
|
Niemann-Pick Disease
|
Sphingomyelinase
|
AR
|
Sphingomyelin
|
Rapid CNS deterioration
Spasticity
Massive hepatosplenomegaly
Lung failure
|
|
Farber’s Disease
|
Ceramidase
|
AR
|
Ceramide
|
Mental Retardation
Macular degeneration
|
Abbrv.- Glc- glucose, Gal- galactose, GalNAc- N-acetylgalactosamine, FA- fatty acid, SO4- Sulfate, Choline-P – phosphocholine
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