Lipid Storage Diseases Flashcards
(31 cards)
What is another name for lipid storage diseases?
Lipidoses
Where can lipids be found
within and between cells and in the myelin sheath that coats and protects the nerves.
Examples of lipids
Oils, fatty acids, steroids and waxes
Examples of lysosome storage diseases
Mucolipidoses
Mucopolysaccharidoses
Mucolipidoses??
excessive amounts of lipids with attached sugar molecules are stored in the cells and tissues.
Mucopolysaccharidoses??
excessive amounts of large, complicated sugar molecules are stored.
______ converts and metabolizes lipids and proteins
Lysosomes
What causes gaucher disease
Deficiency in glucocerebrosidase enzyme
Type 2 Gaucher’s disease is also called
Acute infantile neuropathic Gaucher’s disease
Niemann-pick disease is what type of disease
Autosomal recessive disorder
What nieman-pick disease type is caused by sphingomyelinase enzyme deficiency
Type A and type B
What cause type C niemann-pick disease
Lack of NPC1 or NPC2 protein
What causes fabry disease
Alpha-galactosidase-A deficiency
Alpha-galactosidase-A deficiency causes what?
Fabry disease
______ is the only X-linked storage disease
Fabry disease
Another name for farber’s disease
Farber’s lipogranulomatosis
Farber’s disease is caused by a deficiency in what enzymes?
Ceramidase enzyme
Accusation of fatty material in the ANS is seen in what storage disease
Fabry disease
Accumulation of fatty material in the bone marrow is seen in what condition
Niemann-pick disease
What enzyme is responsible for gangliosidoses lipid storage disease?
Beta-galactosidase enzyme
What enzyme is responsible for gangliosidoses lipid storage disease?
Beta-galactosidase enzyme
What causes acidic lipid material in the CNS, PNS and nerve cell
Beta-galactosidase enzyme deficiency
What is another name for tay-sachs disease?
GM2 gangliosidosis-variant B
Tay-sachs disease is caused by a deficiency in what enzyme?
Hexosaminidase A enzyme
