Lipid storage diseases are a group of lysosomal storage disorders caused by deficiencies of enzymes involved in breaking down lipids in lysosomes. This leads to an accumulation of lipids that cannot be broken down. The diseases can be inherited in an autosomal recessive or X-linked recessive pattern. Some common lipid storage diseases include Gaucher's disease, Niemann-Pick disease, Krabbe's leukodystrophy, and Fabry's disease, each caused by deficiencies in different enzymes involved in lipid metabolism. The accumulated lipids and resulting symptoms vary between each disease.

1. Lipid storage disease
• It s type of lysosomal storage disease
• It may Autosomal recessive : (inheritance occurs when both
parents carry and pass on a copy of the faulty but none of the
parents show symptoms of disease) or
• X linked recessive (or sex linked) inheritance: occurs when the
mother carries the affected gene on the X chromosome that
determines the child’s gender and passes it to her son.
• They are otherwise called Sphingolipidoses.
• Lysosomes are cells present in cytoplasm(suicidal bag) and it
contains more than 40 different hydrolytic enzymes.
• The enzymes can digest protein, carbohydrates, lipids and
nucleic acids.
• Deficiency of the enzyme which involved in the digestion of lipid
inside of lysosome, leads to form lysosomal storage disease

2. Disease Enzyme
defect
Lipid
accumulating
salient feature
1. Gaucher’s disease Beta glucosidase Glucocerebroside 3 types – adult, infantile,
juvenile, Hepatospleeno
megaly, erosion of bone,
Moderate anemia
2. Niemann-Pick
disease
Sphingomyelinase Sphingomyelin Severe CNS
damage,Mental retardation,
Hepatospleenomegaly,
Cherry red spot in macula.
Death occurs by 2 years of
age
3. Krabbe’s
leukodystrophy
Beta galactosidase Galactocerebroside Severe mental retardation,
Total absence of mylein in
CNS. Globoid bodies in
white matter.
4. Metachromatic
leukodystrophy
Sulfatide sulfatase Sulfogalacto
cerebroside
Accumulate in most tissue.
Neurological deficit,
difficulty in speech and
optic atrophy.
Demyelination is also seen.
5. Fabry’s disease Alpha – galactosidase Ceramide trihexoside Kidney is the site
accumulation. Progressive
renal failure. Death by 5
years of age. Purplish

3. Disease Enzyme
defect
Lipid
accumulating
salient feature
6. Tay – sachs disease Hexosaminidase A Ganglioside(GM2) Incidence 1in 6000 births.
Mental retardation.
Cherry spot in macula.
Progressive deterioration.
Death by 3-4 years.
7. Generalised
gangliosidoses
Beta galactosidase Ganglioside(GM1) Mental redardation.
Hepatomegaly, skeletal
deformalities. Foam cells
in bone marrow. Cherry
red spot in retina
8. Lactosyl ceramidoses Beta galactosidase Lactosyl ceramide Mainly CNS and
reticuloendothelial system
affected.
9. Sandhoff’s disease Hexosaminidase A
and B
Globoside Neurological defict,
Mental retardation
10. Farber’s disease Ceramidase Ceramide Painful and deformed
joints