| 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:
- Intellectual disability
- 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 |
|
