| Disease | Deficient enzyme[2] | Accumulated products[2] | Symptoms[2] | Inheritance[2] | Incidence | Generally accepted treatments | Prognosis |
|---|
| Niemann-Pick disease | Sphingomyelinase | Sphingomyelin in brain and RBCs | | Autosomal recessive | 1 in 100,000[3] | Limited | Highly variable, infantile neurovisceral Niemann Pick disease (Type A ASMD) is usually fatal before 3 years of age. Estimasted mortality before adulthood for the Chronic visceral form (type B) is around 15-25%. Many live well into adulthood and may reach a normal lifespan. Diagnosis have been made in the 7th decade of life.[4][5][6] |
|---|
| Fabry disease | α-galactosidase A | Glycolipids, particularly ceramide trihexoside, in brain, heart, kidney | | X-linked[7] | Between 1 in 40,000 to 1 in 120,000 live births for males[8] | Enzyme replacement therapy (but expensive) | Life expectancy among males of approximately 60 years[9] |
|---|
| Krabbe disease | Galactocerebrosidase | Glycolipids, particularly galactocerebroside, in oligodendrocytes | | Autosomal recessive | About 1 in 100,000 births[10] | Bone marrow transplant (high risk, potential failure, effectively provides enzyme replacement to the central nervous system from six months post-transplant, if done in the earliest stages; less effective enzyme replacement provision for the peripheral nervous system) | Untransplanted, and in the case of a failed transplant, generally fatal before age 2 for infants |
|---|
| Gaucher disease | Glucocerebrosidase | Glucocerebrosides in RBCs, liver and spleen | | Autosomal recessive | About 1 in 20,000 live births,[11] more among Ashkenazi Jews | Enzyme replacement therapy (but expensive) | May live well into adulthood |
|---|
| Tay–Sachs disease | Hexosaminidase A | GM2 gangliosides in neurons | - Neurodegeneration
- Developmental disability
- Early death
| Autosomal recessive | Approximately 1 in 320,000 newborns in the general population,[12] more in Ashkenazi Jews | None | Death by approx. 4 years for infantile Tay–Sachs[13] |
|---|
| Metachromatic leukodystrophy (MLD) | Arylsulfatase A or prosaposin | Sulfatide compounds in neural tissue | Demyelination in CNS and PNS:- Mental retardation
- Motor dysfunction
- Ataxia
- Hyporeflexia
- Seizures
| Autosomal recessive[14] | 1 in 40,000 to 1 in 160,000[15] | Bone marrow transplant (high risk, potential failure, effectively provides enzyme replacement to the central nervous system from six months post-transplant, if done in the earliest stages; less effective enzyme replacement provision for the peripheral nervous system) | Untransplanted, and in the case of a failed transplant, death by approx. 5 years for infantile MLD |
|---|
