Lipid Storage Disorders

[mps2mom]

Lipid storage diseases, or the lipidoses, are a group of inherited metabolic disorders in which harmful amounts of fatty materials called lipids accumulate in some of the body’s cells and tissues. People with these disorders either do not produce enough of one of the enzymes needed to metabolize lipids or they produce enzymes that do not work properly. Over time, this excessive storage of fats can cause permanent cellular and tissue damage, particularly in the brain, peripheral nervous system, liver, spleen, and bone marrow.

Gaucher disease: deficiency of the enzyme glucocerebrosidase.

Niemann-Pick disease: a group of autosomal recessive disorders caused by an accumulation of fat and cholesterol in cells of the liver, spleen, bone marrow, lungs, and, in some patients, brain.

Fabry disease: alpha-galactosidase-A deficiency and is X-Linked

Farber’s disease,:Farber’s lipogranulomatosis or ceramidase deficiency

GM1 Gangliosidoses: deficiency of beta-galactosidase

Krabbé disease: deficiency of the enzyme galactosylceramidase

Metachromatic leukodystrophy (MLD): deficiency of the enzyme arylsufatase A

Wolman’s disease: acid lipase deficiency

GM1 gangliosidoses- deficiency of beta-galactosidase

GM2 gangliosidoses: deficiency of the enzyme beta-hexosaminidase
Sub types GM2:
Tay-Sachs disease- deficiency in the enzyme beta-hexosaminidase A
Sandhoff disease- This is a severe form of Tay-Sachs disease