Lipid storage disorders

Human medical condition

human disease characterized by deficiency of the enzyme glucocerebrosidase which results in the accumulation of harmful quantities of the glycolipid glucocerebroside throughout the body

rare human genetic lysosomal storage disorder

neurodegenerative disorder

congenital disorder of the nervous system

human disease

severe metabolic disorders in which sphingomyelin accumulates in lysosomes in cells

extremely rare and fatal autosomal recessive neurodegenerative disorder in humans

hypomyelinating leukodystrophy characterized by impaired myelin formation, nystagmus, spastic quadriplegia, ataxia, and developmental delay that has material basis in mutation in the PLP1 gene on chromosome Xq22

extremely rare autosomal recessive lysosomal storage disease marked by a deficiency in the enzyme ceramidase

autosomal recessive form of xanthomatosis.

autosomal recessive inborn error of metabolism that results in the body not producing enough active lysosomal acid lipase (LAL) enzyme

lysosomal storage disorder from the GM2 gangliosidosis family, characterised by central nervous system degeneration

human disease

lysosomal storage disease

Sphingolipidoses are a class of lipid storage disorders or degenerative storage disorders caused by deficiency of an enzyme that is required for the catabolism of lipids that contain ceramide, also relating to sphingolipid metabolism. The main members of this group are Niemann–Pick disease, Fabry disease, Krabbe disease, Gaucher disease, Tay–Sachs disease and metachromatic leukodystrophy. They are generally inherited in an autosomal recessive fashion, but notably Fabry disease is X-linked recessive. Taken together, sphingolipidoses have an incidence of approximately 1 in 10,000, but substantia

Gangliosidosis contains different types of lipid storage disorders caused by the accumulation of lipids known as gangliosides. There are two distinct genetic causes of the disease. Both are autosomal recessive and affect males and females equally.

lysosomal storage disease that involves the accumulation of harmful amounts of lipids (fats) in some of the body's cells and tissues

lysosomal storage disease

Rare congenital metabolic disorder in humans.

autosomal recessive lipid storage disorder that is characterized by accumulation of cholesterol and sphingomyelins in cells of the viscera and the central nervous system

autosomal recessive genetic disorder

lipid storage disease that is characterized by accumulation of triglycerides in the cytoplasm of leukocytes, muscle, liver, fibroblasts, and other tissues

extremely rare, severe genetic disorder characterized by progressive neurological decline due to ganglioside activator deficiency