Lysosomal storage disorders Flashcards
Whats a lysosome
membrane-bound organelles containing an array of enzymes capable of breaking down all types of biological polymers—proteins, nucleic acids, carbohydrates, and lipids.
function as the digestive system of the cell, both degrading material taken up from outside the cell and digesting obsolete components of the cell itself
how many lysosomal disorders are there
about 70
What are the general symptoms of lysosomal storage disorders
normal at birth, go on to present with progressive neurological and motor deterioration.
what are Lysosomal storage disorders
recessive class of metabolic disorders caused by mutations in proteins critical for lysosomal function. In all cases, insufficiency of a lysosomal function is involved. caused by LoF mutations (>50 known)
What causes Gaucher Disease (GD)
1 ~1 in 60,000 in the general population(1 in 855 in Ashkenazi Jewish population)
- GBA mutations
detect by assaying glucosylceramidase enzyme activity in peripheral blood leucocytes or other nucleated cells
what causes Niemann-Pick Disease Type C (NPC)
for mutations in NPC1 (90%) or NPC2 (4%)
detect by Biochemical testing to demonstrate impaired cholesterol esterification
what causes Fabry Disease
X-linked disorder with prevalence of 1 in 50,000 males
Mutations in GLA :defects in alpha-galactosidase A (ά-Gal A),
what causes Acid Sphingomyelinase (ASM) deficiency in Niemann Pick Disease types A & B
1 in 250,000 (1 in 40,000 in Ashkenazi Jewish population)
SMPD1 mutations : deficiency of acid sphingomyelinase (ASM)
detect by measurement of ASM enzyme activity in peripheral blood lymphocytes or cultured skin fibroblasts
what causes Metachromatic leukodystrophies
mutations in ARSA, few by mutations in PSAP
casued by arylsulfatase A (ARSA) deficiency
whats causes Tay-Sachs
HEXA mutations:
defective alpha subunit of Hexosaminidase to be made affecting Hexosaminidase activity
~1/30-1/40 Ashkenazi Jewish population
